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 the metaphyses||90%|
|Type II diabetes mellitus||90%|
|Abnormality of immune system physiology||50%|
|Abnormality of neutrophils||50%|
|Acute hepatic failure||50%|
|Chronic hepatic failure||50%|
|Delayed skeletal maturation||50%|
|Elevated hepatic transaminases||50%|
|Abnormality of neuronal migration||7.5%|
|Aplasia/Hypoplasia of the pancreas||7.5%|
|Exocrine pancreatic insufficiency||7.5%|
|Intrauterine growth retardation||7.5%|
|Autosomal recessive inheritance||-|
|Carpal bone hypoplasia||-|
|Cone-shaped epiphyses of the phalanges of the hand||-|
|Depressed nasal bridge||-|
|Hypoplasia of the odontoid process||-|
|Insulin-resistant diabetes mellitus||-|
|Irregular carpal bones||-|
|Irregular tarsal ossification||-|
|Irregular vertebral endplates||-|
|Ivory epiphyses of the phalanges of the hand||-|
|Ivory epiphyses of the toes||-|
|Multiple epiphyseal dysplasia||-|
|Narrow iliac wings||-|
|Reduced pancreatic beta cells||-|
|Shortening of all middle phalanges of the fingers||-|
|Upslanted palpebral fissure||-|
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.
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