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1 OMIM reference -
1 associated gene
23 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
12 signs/symptoms
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
MMEP syndrome

IGBP1 SNX3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGBP1
(0.49)
SNX3



Citations in the biomedical literature:


Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
IGBP1
MMEP syndrome
SNX3



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

Synonym(s):
- Graham-Cox syndrome

Synonym(s):
- MCOPS8
- Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism
- Syndromic microphthalmia type 8
- Viljoen-Smart syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Ventricular septal defect / interventricular communication


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

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
- 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



Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cleft lip and palate
- Median cleft lip
- Microcephaly
- Oligodactyly / ectrodactyly of toes
- Prognathism / prognathia

Frequent
- Fingerlike / triphalangeal thumb
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Chromosomal or genetic anomaly