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MMEP syndrome

Disease Summary
Associated Targets (0)

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Mondo Description A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.
Mondo Term and Equivalent IDs
MONDO:0011045:  MMEP syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found