| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 4 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 |
| Short stature | skeletal | 100 % | 11781686 | 2015-09-18 | |
| Microcephaly | nervous | 100 % | 11781686 | 2015-09-18 | |
| High-pitched voice | nervous | 100 % | 11781686 | 2015-09-18 | |
| Cerebellar atrophy | nervous | 100 % | 11781686 | 2015-09-18 | |
| Hypospadia | reproductive | 100 % | 11781686 | 2015-09-18 | |
| Clinodactyly | skeletal | 100 % | 11781686 | 2015-09-18 | |
| Cafe-au-lait spots | integumentary | 100 % | 11781686 | 2015-09-18 | |
| Hypoplasia of the middle phalanx of the fifth finger | skeletal | 100 % | 11781686 | 2015-09-18 | |
| Ectopic kidney | urinary | 25 % | 11781686 | 2015-09-18 |
List of references:
A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.
A D Børglum, T Balslev, A Haagerup, N Birkebaek, H Binderup, T A Kruse, J M Hertz,
European journal of human genetics : EJHG - Oct 2001