| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
| Persistent fetal finger pads | multi | 100 % | 24403049 | 2024-05-28 | |
| Brachydactyly | circulatory | 100 % | 24403049 | 2024-05-28 | |
| Small hands | multi | 100 % | 24403049 | 2024-05-28 | |
| Widow's peak | integumentary | 100 % | 24403049 | 2024-05-28 | |
| Prominent nose | multi | 100 % | 24403049 | 2024-05-28 | |
| Coarse facial features | multi | 100 % | 24403049 | 2024-05-28 | |
| Short stature | endocrine | 100 % | 24403049 | 2024-05-28 | |
| Autism | nervous | 100 % | 24403049 | 2024-05-28 | |
| Mental retardation | nervous | 100 % | 24403049 | 2024-05-28 | |
| Speech delay | multi | 100 % | 24403049 | 2024-05-28 | |
| Developmental delay | multi | 100 % | 24403049 | 2024-05-28 | |
| Obsessive behavioral routines | nervous | 50 % | 24403049 | 2024-05-28 | |
| Seizures | nervous | 50 % | 24403049 | 2024-05-28 | |
| Instability of body temperature | multi | 50 % | 24403049 | 2024-05-28 | |
| Bronchiolitis | respiratory | 50 % | 24403049 | 2024-05-28 | |
| Sinusitis | lymphatic | 50 % | 24403049 | 2024-05-28 |
List of references:
Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect.
Andrew Dauber, Altan Ercan, Jack Lee, Philip James, Pieter P Jacobs, David J Ashline, Sophie R Wang, Timothy Miller, Joel N Hirschhorn, Peter A Nigrovic, Robert Sackstein,
Human molecular genetics - Jun 2014