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1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
7 OMIM references -
8 associated genes
15 signs/symptoms
17p13.3 microduplication syndrome
Senior-Loken syndrome

PAFAH1B1 CEP164
YWHAE CEP290
INVS
IQCB1
NPHP1
NPHP3
NPHP4
SDCCAG8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PAFAH1B1
(0.72)
IQCB1



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Senior-Loken syndrome
CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
NPHP4 SDCCAG8



17p13.3 microduplication syndrome
Senior-Loken syndrome

Synonym(s):
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3

Synonym(s):
- Nephronophthisis with retinal dystrophy
- Renal dysplasia - retinal aplasia
- SLSN

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
1 MeSH reference: C537580


COMMON
SIGNS
- Intellectual deficit / mental / psychomotor retardation / learning disability


17p13.3 microduplication syndrome
Senior-Loken syndrome

Very frequent
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Hypotonia
- Microstomia / little mouth
- Short / small nose

Frequent
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Short neck

Occasional
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Tall stature / gigantism / growth acceleration


Very frequent
- Autosomal recessive inheritance
- Chronic arterial hypertension
- Mild visual loss / impaired visual acuity
- Multicystic kidney / renal dysplasia
- Polycystic kidneys
- Retinitis pigmentosa / retinal pigmentary changes
- Short stature / dwarfism / nanism

Frequent
- Renal tubular defect / tubulopathy
- Visual loss / blindness / amblyopia

Occasional
- Abnormal / absent ossification
- Ataxia / incoordination / trouble of the equilibrium
- Cataract / lens opacification
- Cone epiphyses / epiphysis
- Congenital hepatic fibrosis