| FUT8 | Fucose transporter, recently implicated in some WWS cases. |
| Cerebellar hypoplasia | Underdevelopment of the cerebellum, particularly the vermis, contributing to ataxia and motor dysfunction. |
| Ventriculomegaly | Enlargement of the cerebral ventricles, often due to obstruction of cerebrospinal fluid flow. |
| Corpus callosum agenesis | Partial or complete absence of the corpus callosum connecting the cerebral hemispheres. |
| Brainstem abnormalities | Including hypoplasia of the pons and medulla. |
| Severe hypotonia | Floppy infant appearance from birth |
| Poor motor development | Failure to achieve milestones like head control |
| Feeding difficulties | Requiring nutritional support |
| Respiratory distress | Due to weak respiratory muscles |
| Profound intellectual disability | Most surviving children have severe cognitive impairment |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
No AI portrait yet
No comments yet. Be the first to comment!