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1 OMIM reference -
1 associated gene
23 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
No signs/symptoms info
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Combined deficiency of factor V and factor VIII

IGBP1 LMAN1
MCFD2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGBP1
(0.49)
MCFD2



Citations in the biomedical literature:


Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
IGBP1
Combined deficiency of factor V and factor VIII
LMAN1 MCFD2



Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Combined deficiency of factor V and factor VIII

Synonym(s):
- Graham-Cox syndrome

Synonym(s):
- F5F8D
- FV and FVIII combined deficiency
- Familial multiple coagulation factor deficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal recessive

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

Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia

Very frequent
- Anomalies of ear and hearing
- Conductive deafness / hearing loss
- Corpus callosum / septum pellucidum total / partial agenesis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Pectus excavatum
- Scoliosis
- Sensorineural deafness / hearing loss
- Short neck
- Short stature / dwarfism / nanism
- X-linked recessive inheritance

Frequent
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of iris
- High nasal bridge
- High vaulted / narrow palate
- Patent ductus arteriosus
- Ventricular septal defect / interventricular communication



Combined deficiency of factor V and factor VIII

(no data available)