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) |
| - | |
| Broad-based gait | - |
| Cerebellar atrophy | - |
| Cerebral palsy | - |
| - | |
| Dysdiadochokinesis | - |
| Horizontal |
- |
| Infantile onset | - |
| Motor delay | - |
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.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Hypoxic Ischemic Encephalopathy: Opportunities and Challenges
Monday, August 9, 2010 -
Tuesday, August 10, 2010
Location: Pooks Hill Marriott,
Bethesda,
MD
Description: The goals of this meeting were to review the current evidence for care practices and define gaps for which knowledge regarding care is lacking. It was hoped that information (or lack thereof) presented at this meeting would lead to new initiatives and advancement of knowledge and care in the field.
Contact: Rosemary D. Higgins, M.D., higginsr@mail.nih.govhigginsr@mail.nih.gov
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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