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 eye movement||90%|
|Abnormality of movement||90%|
|Abnormality of the palate||90%|
|Cerebral cortical atrophy||90%|
|External ear malformation||90%|
|Aplasia/Hypoplasia of the cerebellum||50%|
|Edema of the lower limbs||50%|
|Limitation of joint mobility||50%|
|Recurrent respiratory infections||50%|
|Abnormality of the hand||-|
|Autosomal recessive inheritance||-|
|Feeding difficulties in infancy||-|
|Intellectual disability, profound||-|
|Neuronal loss in central nervous system||-|
|Severe muscular hypotonia||-|
|Tented upper lip vermilion||-|
|Undetectable visual evoked potentials||-|
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.
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.
Nutritional Challenges in the High-Risk Infant Monday, September 14, 2009 -
Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.
Contact: Dr. Rosemary D. Higgins, NICHD 301-435-7909
Co-funding Institute(s): National Institute of Child Health and Human Development