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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
13 signs/symptoms
Semilobar holoprosencephaly
Brachydactyly type A1

CDON GDF5
DISP1 IHH
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTCH1
(0.52)
IHH



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Brachydactyly type A1
GDF5 IHH



Semilobar holoprosencephaly
Brachydactyly type A1

Synonym(s):
(no synonyms)

Synonym(s):
- Brachydactyly, Farabee type

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: C537088

Brachydactyly type A1

Very frequent
- Autosomal dominant inheritance
- Short big toe
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Thumb hypoplasia / aplasia / absence

Frequent
- Cone epiphyses / epiphysis

Occasional
- Clinodactyly of fifth finger
- Metacarpal anomalies / Archibald's sign
- Scoliosis
- Symphalangy of fingers
- Talipes-varus / metatarsal varus
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray


Semilobar holoprosencephaly

(no data available)