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1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
1 OMIM reference -
18 associated genes
26 signs/symptoms
17p13.3 microduplication syndrome
Bardet-Biedl syndrome

PAFAH1B1 ARL6
YWHAE BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CEP290
LZTFL1
MKKS
MKS1
SDCCAG8
TRIM32
TTC8
WDPCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.63)
TRIM32



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Bardet-Biedl syndrome
ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
BBS4 BBS5 BBS7 BBS9 CEP290 LZTFL1
MKKS MKS1 SDCCAG8 TRIM32 TTC8 WDPCP



17p13.3 microduplication syndrome
Bardet-Biedl syndrome

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

Synonym(s):
- BBS

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- 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: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020788


COMMON
SIGNS
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Micropenis / small penis / agenesis
- Short neck


17p13.3 microduplication syndrome
Bardet-Biedl syndrome

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

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
- Tall stature / gigantism / growth acceleration


Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Autosomal recessive inheritance
- Generalized obesity
- Multicystic kidney / renal dysplasia
- Postaxial polydactyly (hand)
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Abnormal / polycystic ovaries
- Chronic arterial hypertension
- Late puberty / hypogonadism / hypogenitalism
- Nystagmus
- Short stature / dwarfism / nanism

Occasional
- Flared eyebrows
- Hearing loss / hypoacusia / deafness
- Hepatocellular liver disease / hepatic failure
- High nasal bridge
- Hirsutism / hypertrichosis / Increased body hair
- Nephrotic syndrome
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Structural anomalies of the liver and the biliary tract
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes