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Prevalence (%) of clinical parameters based on data from 1 references describing 11 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Neuropathy | nervous | 100 % | 25728773 | 2015-09-25 | |
| Oculomotor apraxia | nervous | 100 % | 25728773 | 2015-09-25 | |
| Ataxia | nervous | 100 % | 25728773 | 2015-09-25 | |
| Cerebellar atrophy | nervous | 100 % | 25728773 | 2015-09-25 | |
| Areflexia | nervous | 100 % | 25728773 | 2015-09-25 | |
| Dystonia | nervous | 72 % | 25728773 | 2015-09-25 | |
| Mental retardation | nervous | 70 % | 25728773 | 2015-09-25 | |
| Hypoalbuminemia | circulatory | 54 % | 25728773 | 2015-09-25 | |
| Increased blood AFP | circulatory | 45 % | 25728773 | 2015-09-25 | |
| Hypercholesterolemia | circulatory | 45 % | 25728773 | 2015-09-25 | |
| Obesity | multi | 36 % | 25728773 | 2015-09-25 | |
| Brainstem atrophy | nervous | 27 % | 25728773 | 2015-09-25 | |
| Pyramidal signs | nervous | 18 % | 25728773 | 2015-09-25 |
List of references:
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro,
American journal of human genetics - Mar 2015