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|
|Abnormal chorioretinal morphology||0000532|
|Abnormal retinal vascular morphology||
Abnormality of retina blood vessels
|Anterior chamber synechiae||0007833|
Clouding of the lens of the eye
Cloudy lens[ more ]
|Deeply set eye||
Deep set eye
Sunken eye[ more ]
|Hypoplasia of the iris||
Abnormally close eyes
Closely spaced eyes[ more ]
Abnormally small eyeball
|Narrow nasal bridge||
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin[ more ]
Hardening of skin and connective tissue
Blood vessel tumor
|30%-79% of people have these symptoms|
|Abnormal cochlea morphology||0000375|
Excessive, persistent worry and fear
|Aplasia/Hypoplasia of the lens||
Absent/underdeveloped lens[ more ]
Mental retardation, progressive
Progressive mental retardation[ more ]
Involuntary, rapid, rhythmic eye movements
|Remnants of the hyaloid vascular system||0007968|
Repetitive or self-injurious behavior[ more ]
Poorly functioning veins
|5%-29% of people have these symptoms|
|Abnormal pupil morphology||
Abnormality of the pupil
Pupillary abnormality[ more ]
|Abnormality of the diencephalon||0010662|
|Abnormality of the helix||0011039|
|Aplasia/Hypoplasia of the cerebellum||
Absent/underdeveloped cerebellum[ more ]
|Attention deficit hyperactivity disorder||
Attention deficit disorder
Attention deficit-hyperactivity disorder
Childhood attention deficit/hyperactivity disorder[ more ]
|Cerebral cortical atrophy||
Decrease in size of the outer layer of the brain due to loss of brain cells
Undescended testis[ more ]
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
Loss of developmental milestones
Mental deterioration in childhood[ more ]
|Failure to thrive||
Weight faltering[ more ]
Sensory hallucination[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Intermittent migraine headaches
Migraine headaches[ more ]
Low or weak muscle tone
Prominent ears[ more ]
Abnormal curving of the spine
|Sensorineural hearing impairment||0000407|
Trouble sleeping[ more ]
|Thin vermilion border||
Decreased volume of lip
Thin lips[ more ]
|Percent of people who have these symptoms is not available through HPO|
Aggressiveness[ more ]
Progressive dementia[ more ]
|Opacification of the corneal stroma||0007759|
|Shallow anterior chamber||0000594|
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 diagnosis includes retinoblastoma in cases with unilateral pseudoglioma, and other disorders related to NDP mutations such as retinopathy of prematurity, persistent hyperplastic primary vitreous, and familial exudative vitreoretinopathy (see these terms).
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.
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. Submit a new question
My sister and I are carriers of Norrie disease. We feel like we have some of the symptoms of the disease. Is this possible? See answer
I have 2 sons, a 12 year old and 22 year old. Both were blind after the birth and diagnosed with Norrie. Do you know if any progress has been made anywhere on earth to restore vision including but not limited to stem cell treatments? See answer