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)|
|Abnormality of the voice||-|
|Autosomal recessive inheritance||-|
|Decreased plasma carnitine||-|
|Delayed skeletal maturation||-|
|Elevated intracellular cystine||-|
|Episodic metabolic acidosis||-|
|Exocrine pancreatic insufficiency||-|
|Failure to thrive in infancy||-|
|Hypopigmentation of hair||-|
|Hypopigmentation of the skin||-|
|Progressive neurologic deterioration||-|
|Recurrent corneal erosions||-|
|Reduced visual acuity||-|
|Renal Fanconi syndrome||-|
|Retinal pigment epithelial mottling||-|
|Skeletal muscle atrophy||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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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.
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.