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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 |
| Skin wrinkles | integumentary | 100 % | 24913064 | 2024-04-29 | |
| Cataract | nervous | 100 % | 24913064 | 2024-04-29 | |
| Prominent ears | multi | 100 % | 24913064 | 2024-04-29 | |
| Midfacial hypoplasia | multi | 100 % | 24913064 | 2024-04-29 | |
| Facial dysmorphism | multi | 100 % | 24913064 | 2024-04-29 | |
| Short limbs | endocrine | 100 % | 24913064 | 2024-04-29 | |
| Contracture | skeletal | 100 % | 24913064 | 2024-04-29 | |
| Triangular face | multi | 100 % | 24913064 | 2024-04-29 | |
| Hip dysplasia | skeletal | 100 % | 24913064 | 2024-04-29 | |
| Adducted thumb syndrome | skeletal | 100 % | 24913064 | 2024-04-29 | |
| Progeroid | multi | 100 % | 24913064 | 2024-04-29 | |
| Hypermobility | skeletal | 100 % | 24913064 | 2024-04-29 | |
| Short stature | endocrine | 100 % | 24913064 | 2024-04-29 | |
| Cardiac structural defects | circulatory | 100 % | 24913064 | 2024-04-29 | |
| Mental retardation | nervous | 100 % | 24913064 | 2024-04-29 | |
| Ventricular septal defects | circulatory | 100 % | 24913064 | 2024-04-29 |
List of references:
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
Björn Fischer, Bert Callewaert, Phillipe Schröter, Paul J Coucke, Claire Schlack, Claus-Eric Ott, Manrico Morroni, Wolfgang Homann, Stefan Mundlos, Eva Morava, Anna Ficcadenti, Uwe Kornak,
Molecular genetics and metabolism - Aug 2014