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Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
1 OMIM reference -
1 associated gene
23 connected diseases
23 signs/symptoms
Disease Type of connection
X-linked Opitz G / BBB syndrome
X-linked non-syndromic intellectual deficit
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Chronic mucocutaneous candidiasis
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease type 4D
Combined deficiency of factor V and factor VIII
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
MMEP syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Solitary fibrous tumor
Systemic-onset juvenile idiopathic arthritis
Uveal coloboma - cleft lip and palate - intellectual deficit
Synonym(s):
- Graham-Cox syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
IGBP1 P78318300139
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