This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Decreased immune function
Low blood neutrophil count
Low neutrophil count[ more ]
Involuntary, rapid, rhythmic eye movements
Partial absent skin pigmentation
|30%-79% of people have these symptoms|
|Abnormality of the optic nerve||
Optic nerve issue
|Abnormality of visual evoked potentials||0000649|
Wandering eye[ more ]
Abnormal curving of the cornea or lens of the eye
Easy bruising[ more ]
Clouding of the lens of the eye
Cloudy lens[ more ]
Nosebleed[ more ]
|Hypopigmentation of hair||
Loss of hair color
Nearsightedness[ more ]
Absent pigmentation in the eye
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
Renal failure in adulthood[ more ]
Squint eyes[ more ]
|5%-29% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
|Abnormality of dental enamel||
Abnormal tooth enamel
Enamel abnormality[ more ]
Disease of the heart muscle
Tiredness[ more ]
Increased length of eyelashes
Unusually long eyelashes[ more ]
|Squamous cell carcinoma of the skin||0006739|
|Percent of people who have these symptoms is not available through HPO|
|Abnormal hair morphology||
Abnormality of the hair
Hair abnormality[ more ]
|Freckles in sun-exposed areas||0007603|
|Prolonged bleeding time||0003010|
|Restrictive ventilatory defect||
Stiff lung or chest wall causing decreased lung volume
|Severely reduced visual acuity||
Marked vision impairment
Severe visual impairment
Severely impaired vision[ more ]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other forms/causes of oculocutaneous albinism, i.e., X-linked ocular albinism, Chediak-Higashi syndrome, Griscelli syndrome, Cross syndrome, pulmonary fibrosis and hemophagocytic lymphohistiocytosis.
Visit the Orphanet disease page for more information.
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.
The Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research involving pulmonary alveolar proteinosis, Hermansky-Pudlak Syndrome, and Lymphangioleiomyomatosis. A pilot project program supports research into other rare lung diseases that complement the main research projects.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.