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Prevalence (%) of clinical parameters based on data from 2 references describing 52 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 |
| Alopecia | integumentary | 100 % | 17167799 | 2015-05-06 | |
| Hypogonadism | reproductive | 100 % | 17167799 | 2015-05-06 | |
| Decreased serum IGF-1 | circulatory | 100 % | 17167799 | 2015-05-06 | |
| Alopecia | integumentary | 100 % | 29574468 | 2019-10-29 | |
| Hypoplastic uterus | reproductive | 100 % | 29574468 | 2019-10-29 | |
| Hypogonadism | reproductive | 100 % | 29574468 | 2019-10-29 | |
| Diabetes mellitus type 2 | endocrine | 100 % | 29574468 | 2019-10-29 | |
| Mental retardation | nervous | 91 % | 17167799 | 2015-05-06 | |
| Hearing loss | nervous | 85 % | 17167799 | 2015-05-06 | |
| Dysarthria | nervous | 80 % | 29574468 | 2019-10-29 | |
| Dystonia | nervous | 80 % | 29574468 | 2019-10-29 | |
| Dystonia | nervous | 67 % | 17167799 | 2015-05-06 | |
| Hypothyroidism | endocrine | 60 % | 29574468 | 2019-10-29 | |
| Dysphagia | nervous | 60 % | 29574468 | 2019-10-29 | |
| Leukodystrophy | nervous | 60 % | 29574468 | 2019-10-29 | |
| Hearing loss | nervous | 60 % | 29574468 | 2019-10-29 | |
| Increased blood LDL | circulatory | 60 % | 29574468 | 2019-10-29 | |
| Basal ganglia pathology | nervous | 53 % | 17167799 | 2015-05-06 | |
| Leukodystrophy | nervous | 47 % | 17167799 | 2015-05-06 | |
| Diabetes mellitus type 2 | endocrine | 38 % | 17167799 | 2015-05-06 | |
| Diabetes mellitus type 1 | endocrine | 26 % | 17167799 | 2015-05-06 | |
| Hypothyroidism | endocrine | 25 % | 17167799 | 2015-05-06 | |
| Dysarthria | nervous | 4 % | 17167799 | 2015-05-06 |
List of references:
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.
Abdulaziz Al-Semari, Saeed Bohlega,
American journal of medical genetics. Part A - Jan 2007
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.
Mohammad Almeqdadi, Jennifer L Kemppainen, Pavel N Pichurin, Ralitza H Gavrilova,
The American journal of case reports - Mar 2018