Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
MDPL

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Prevalence (%) of clinical parameters based on data from 1 references describing 7 individuals







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 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%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hearing loss nervous 100 % 20631028 2015-08-11
Hyperinsulinemia endocrine 100 % 20631028 2015-08-11
Hypogonadism endocrine 100 % 20631028 2015-08-11
Micrognathia skeletal 100 % 20631028 2015-08-11
Dental crowding digestive 100 % 20631028 2015-08-11
Beaked nose skeletal 100 % 20631028 2015-08-11
Muscle atrophy skeletal 100 % 20631028 2015-08-11
Lipodystrophy integumentary 86 % 20631028 2015-08-11
Hypertriglyceridemia circulatory 86 % 20631028 2015-08-11
Weight loss multi 86 % 20631028 2015-08-11
Contracture skeletal 71 % 20631028 2015-08-11
Telangiectasia circulatory 67 % 20631028 2015-08-11
Steatosis digestive 60 % 20631028 2015-08-11
Hepatomegaly digestive 60 % 20631028 2015-08-11
Corneal keratosis integumentary 33 % 20631028 2015-08-11
Diabetes mellitus type 2 endocrine 29 % 20631028 2015-08-11



List of references:


A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.
Savitha Shastry, Vinaya Simha, Koumudi Godbole, Paolo Sbraccia, Serge Melancon, Chittaranjan S Yajnik, Giuseppe Novelli, Matthias Kroiss, Abhimanyu Garg,



The Journal of clinical endocrinology and metabolism - Oct 2010