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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
19 signs/symptoms
Microform holoprosencephaly
Acrocallosal syndrome

CDON GLI3
DISP1 KIF7
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ZIC2
(0.85)
GLI3



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Acrocallosal syndrome
GLI3 KIF7



Microform holoprosencephaly
Acrocallosal syndrome

Synonym(s):
- Microform HPE

Synonym(s):
- ACS

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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:
(no data available)

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

Acrocallosal syndrome

Very frequent
- Autosomal recessive inheritance
- Corpus callosum / septum pellucidum total / partial agenesis
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Postaxial polydactyly (hand)

Frequent
- Dandy-Walker anomaly
- Fingerlike / triphalangeal thumb
- Prominent occiput / occipital bossing
- Sloping forehead

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clavicle absent / abnormal
- Diaphragmatic hernia / defect / agenesis
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Large fontanelle / delayed fontanelle closure
- Sensorineural deafness / hearing loss
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Microform holoprosencephaly

(no data available)