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17p11.2 microduplication syndrome
1 OMIM reference -
1 associated gene
13 connected diseases
30 signs/symptoms
Disease Type of connection
Smith-Magenis syndrome
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Familial amyloid polyneuropathy
Giant cell glioblastoma
Gliosarcoma
Multiple endocrine neoplasia type 1
Myxoid / round cell liposarcoma
Neurofibromatosis type 3
Thrombocytopenia with congenital dyserythropoietic anemia
Transthyretin-related familial amyloid cardiomyopathy
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Synonym(s):
- Potocki-Lupski syndrome
- Trisomy 17p11.2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C536578
Gene symbol UniProt reference OMIM reference
RAI1 Q7Z5J4607642
Very frequent
- Anomaly of the pharynx / pharyngeal anomaly
- Apnea / sleep apnea
- Autism / autistic disoders
- Elocution disorders / dysarthria / dysphonia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperactivity / attention deficit
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Total / partial trisomy / duplication

Frequent
- Broad forehead
- Congenital cardiac anomaly / malformation / cardiopathy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- EEG anomalies
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypermetropia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Triangular face

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Dental malocclusion
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Macrostomia / big mouth
- Microcephaly
- Short stature / dwarfism / nanism
- Tooth shape anomaly