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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
Semilobar holoprosencephaly
Jackson-Weiss syndrome

CDON FGFR2
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
(0.62)
FGFR2



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Jackson-Weiss syndrome
FGFR2



Semilobar holoprosencephaly
Jackson-Weiss syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Craniosynostosis - midfacial hypoplasia - foot abnormalities
- JWS

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537559

Jackson-Weiss syndrome

Very frequent
- Autosomal dominant inheritance
- Broad / bifid big toe
- Hypertelorism
- Mid-facial hypoplasia / short / small midface
- Syndactyly of toes
- Tarsal anomaly / fusion / synostosis
- Turricephaly / oxycephaly / acrocephaly

Frequent
- Beaked nose
- Flat supraorbital ridge
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Prognathism / prognathia
- Proptosis / exophthalmos
- Ptosis
- Strabismus / squint

Occasional
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Oligodactyly / ectrodactyly of toes
- Preaxial polydactyly of toes / big toe duplication
- Symphalangy of fingers
- Syndactyly of fingers / interdigital palm


Semilobar holoprosencephaly

(no data available)