The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Cranial nerve paralysis||90%|
|Sensorineural hearing impairment||90%|
|Feeding difficulties in infancy||50%|
|Neurological speech impairment||50%|
|Skeletal muscle atrophy||50%|
|Abnormality of color vision||7.5%|
|Abnormality of retinal pigmentation||7.5%|
|Abnormality of the autonomic nervous system||7.5%|
|Abnormality of the genital system||7.5%|
|Abnormality of the macula||7.5%|
|Cerebral cortical atrophy||7.5%|
|Decreased body weight||7.5%|
|Autosomal recessive inheritance||-|
|Cranial nerve motor loss||-|
|Hand muscle atrophy||-|
|Neck muscle weakness||-|
|Proximal muscle weakness||-|
|Recurrent respiratory infections||-|
|Vocal cord paralysis||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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What causes riboflavin transporter deficiency? Is genetic testing for this available? Who can I talk to if a diagnosis of riboflavin transporter deficiency is suspected in a friend or family member? How can I learn more about research? See answer