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microphthalmia, syndromic 11

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.
Uniprot Description A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Mondo Term and Equivalent IDs
MONDO:0013734:  microphthalmia, syndromic 11
UMLS:C3553077: