Cytoscape Web
Click node...

17q11.2 microduplication syndrome
1 OMIM reference -
1 associated gene
17 signs/symptoms
PROTEIN INTERACTIONS: 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
1 OMIM reference -
1 associated gene
No signs/symptoms info
17q11.2 microduplication syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

NF1
(UniProt - OMIM)
 DYNC1H1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
NF1
(0.14)
DYNC1H1


Citations in the biomedical literature:


17q11.2 microduplication syndrome
NF1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1



17q11.2 microduplication syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Synonym(s):
- Dup(17)(q11.2)
- Grisart-Destrée syndrome
- Trisomy 17q11.2
Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
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


Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

(no data available)