ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
23 signs/symptoms

MMEP syndrome

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


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

Citations in the biomedical literature:

MMEP syndrome		Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
	Synonym(s): - MCOPS8 - Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism - Syndromic microphthalmia type 8 - Viljoen-Smart syndrome		Synonym(s): - Graham-Cox 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: (no data available)		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		External references: 1 OMIM reference - No MeSH references


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

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