C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

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C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

Synonyms: C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy | Hypomyelinating leukodystrophy due to hikeshi deficiency

A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly optic atrophy nystagmus ataxia or seizures.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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C11ORF73-related autosomal recessive hypomyelinating leukodystrophy?

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Advocacy Organizations

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

Clinical Trials

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