About this condition

Atypical hypotonia-cystinuria syndrome

This is information, not medical advice. A doctor or genetic counsellor is the right person for decisions.

What this means, in plain words

Atypical hypotonia-cystinuria syndrome is a rare condition linked to the CAMKMT, PREPL and SLC3A1 genes.

No two people with this condition are the same, and not everything on this page will apply to everyone.

You are not alone

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People you can contact

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Things you can do this week

Write down your questions and take them to your next appointment (ours are below).

Questions to bring to your doctor

Has a gene change been found, and is it the kind usually seen in atypical hypotonia-cystinuria syndrome?
Is there a treatment for this condition, or a study we could join?
Should we see a genetic counsellor about what this means for the rest of the family?

Questions for our appointment

About: Atypical hypotonia-cystinuria syndrome

Has a gene change been found, and is it the kind usually seen in atypical hypotonia-cystinuria syndrome?
Is there a treatment for this condition, or a study we could join?
Should we see a genetic counsellor about what this means for the rest of the family?

This is information, not medical advice. Prepared with Phenotech, a rare-disease atlas. Sources: Orphanet (https://www.orpha.net/en/disease/detail/238523); ClinicalTrials.gov (https://clinicaltrials.gov/search?cond=atypical%20hypotonia-cystinuria%20syndrome&aggFilters=status:rec%20not).

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The detailed view: how it works in the body, related diseases and research ideas.