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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
18 signs/symptoms
Microform holoprosencephaly
WAGR syndrome

CDON BDNF
DISP1 PAX6
DLL1 WT1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SIX3
(0.75)
PAX6



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
WAGR syndrome
BDNF PAX6 WT1



Microform holoprosencephaly
WAGR syndrome

Synonym(s):
- Microform HPE

Synonym(s):
- Deletion 11p13
- Monosomy 11p13
- Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease
- Rare renal disease
- Rare urogenital disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
2 MeSH references: C538295 / D017624

WAGR syndrome

Very frequent
- Aniridia / iris hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Anomalies of ear and hearing
- Cataract / lens opacification
- Hypospadias / epispadias / bent penis
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Protruding lips
- Ptosis
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Ambiguous genitalia
- Generalized obesity
- Glaucoma
- Inguinal / inguinoscrotal / crural hernia
- Scoliosis


Microform holoprosencephaly

(no data available)