MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
A rare genetic neurometabolic disease characterized by microcephaly short stature epilepsy cerebral hypomyelination severe global developmental delay and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time mild cerebellar atrophy and/or thin corpus callosum.
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 December 2023
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MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome?
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Find a cure for LBSL, advance awareness of the disease, and support patients, families, and medical providers confronted with this ultra-rare condition.
For a list of clinical trials in this disease area, please click here.