Microphthalmia, Syndromic 8 (MCOPS8)

Alias:

Mmep Syndrome

Mcops8

Viljoen-Smart Syndrome

Microcephaly-Microphthalmia-Ectrodactyly of Lower Limbs-Prognathism Syndrome

Syndromic Microphthalmia Type 8

Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism

Syndromic Microphthalmia 8

Mmep

Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs and Prognathism

Microphthalmia, Syndromic, 8

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microphthalmia, Syndromic 8, also known as mmep syndrome, is related to microphthalmia and split-hand/foot malformation 1. An important gene associated with Microphthalmia, Syndromic 8 is SNX3 (Sorting Nexin 3), and among its related pathways/superpathways are Gastrulation and Neural Stem Cells and Lineage-specific Markers. Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and mandibular prognathia

Related ID：

MALACARDS：MCR245

OMIM：601349

MESH：C537686