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)|
|Abnormal hair quantity||90%|
|Abnormality of the palate||90%|
|Clinodactyly of the 5th finger||90%|
|Delayed skeletal maturation||90%|
|Disproportionate tall stature||90%|
|Hypoplasia of penis||90%|
|Skeletal muscle atrophy||90%|
|Abnormality of the hip bone||50%|
|Abnormality of the pinna||50%|
|Limitation of joint mobility||50%|
|Prominent nasal bridge||50%|
|Abnormality of the ribs||7.5%|
|Abnormality of metabolism/homeostasis||-|
|Autosomal recessive inheritance||-|
|Intellectual disability, progressive||-|
|Intellectual disability, severe||-|
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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.