Clinical Signs and Symptoms
ORPHA:765 Pyruvate dehydrogenase deficiency
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal pyramidal sign HP:0007256
- Abnormality of eye movement HP:0000496
- Aplasia/Hypoplasia of the corpus callosum HP:0007370
- Ataxia HP:0001251
- Choreoathetosis HP:0001266
- Dysarthria HP:0001260
- Gait disturbance HP:0001288
- Global developmental delay HP:0001263
- Intrauterine growth retardation HP:0001511
- Microcephaly HP:0000252
- Osteolytic defects of the middle phalanx of the 4th toe HP:0100453
- Seizures HP:0001250
- Spasticity HP:0001257
- Tachypnea HP:0002789
- Tremor HP:0001337
- Cerebral palsy HP:0100021
- Dyspnea HP:0002094
- Dystonia HP:0001332
- Epicanthus HP:0000286
- Frontal bossing HP:0002007
- High palate HP:0000218
- Hypertelorism HP:0000316
- Long philtrum HP:0000343
- Multiple lipomas HP:0001012
- Narrow face HP:0000275
- Pectus excavatum HP:0000767
- Trigonocephaly HP:0000243
- Upslanted palpebral fissure HP:0000582
- Ventriculomegaly HP:0002119
- Wide nasal bridge HP:0000431
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.