Microcephalic cortical malformations-short stature due to RTTN deficiency
A rare genetic neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly moderate to severe intellectual disability and global developmental delay. Variable brain malformations are common ranging from simplified gyration to cortical malformations such as pachygyria polymicrogyria reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed and may be severe.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Microcephalic cortical malformations-short stature due to RTTN deficiency?
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