Mito DB

Prevalence (%) of clinical parameters based on data from 1 references describing 69 individuals

Add new symptom/sign to this disease

Select symptom from list or write it in the box		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
Anemia	circulatory	100 %	8826887	2015-01-12
Macrocytic anemia	circulatory	67 %	8826887	2015-01-12
Facial dysmorphism	skeletal	35 %	8826887	2015-01-12
Short stature	skeletal	28 %	8826887	2015-01-12
Intrauterine growth retardation	multi	25 %	8826887	2015-01-12
Thumb abnormalities	skeletal	18 %	8826887	2015-01-12
High arched palate	skeletal	15 %	8826887	2015-01-12
Cleft lip or palate	skeletal	6 %	8826887	2015-01-12

List of references:

Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.
S E Ball, C P McGuckin, G Jenkins, E C Gordon-Smith,

British journal of haematology - Sep 1996