TMX2-Related Neurodevelopmental Disorder With Bilateral Polymicrogyria and Syndactyly: A Case Report From Morocco

Asmae Baaziz, Asmaa Mdaghri Alaoui · 2026

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Description

Asmae Baaziz and Asmaa Mdaghri Alaoui present a 2026 case report from Morocco of an extremely rare inherited brain development disorder linked to a gene called TMX2. The condition causes severe learning disability, a small head, stiffness, epilepsy, and abnormal folding of the brain surface. Their patient was a 13-month-old boy whose parents are cousins.

The baby had severe delays, very weak trunk control, no head control, and a head that grew too slowly. Epilepsy began at seven months. Brain imaging showed abnormal folding on both sides at the front. The examination also found joined toes on both feet, a feature not previously reported with this disorder, which widens its known picture.

Catalog record

CREATORAsmae Baaziz, Asmaa Mdaghri Alaoui
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE17235
LICENSEhttps://creativecommons.org/licenses/by/4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/article/MED/PMC13381026

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