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Mucolipidosis II

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Prevalence (%) of clinical parameters based on data from 3 references describing 44 individuals







Add new symptom/sign to this disease

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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%)
Please provide your name and contact information as a reference
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 19617216 2018-03-05
Short stature skeletal 100 % 19617216 2018-03-05
Recurrent infections lymphatic 100 % 19617216 2018-03-05
Dysostosis multiplex skeletal 100 % 19617216 2018-03-05
Wide digital bones skeletal 100 % 19617216 2018-03-05
Cardiac valve thickening circulatory 90 % 20367762 2018-03-05
Heart murmur circulatory 88 % 19197337 2018-03-05
Hepatomegaly digestive 85 % 19197337 2018-03-05
Feeding difficulties digestive 50 % 19617216 2018-03-05
Gingival hypertrophy digestive 36 % 19617216 2018-03-05
Tibial bowing skeletal 36 % 19617216 2018-03-05
Hernia digestive 36 % 19617216 2018-03-05
Corneal opacities nervous 36 % 19617216 2018-03-05
Contracture skeletal 29 % 19617216 2018-03-05
Tracheostoma respiratory 29 % 19617216 2018-03-05
Hip dysplasia skeletal 21 % 19617216 2018-03-05
Intrauterine growth retardation skeletal 20 % 19617216 2018-03-05
Echogenic cardiac foci circulatory 20 % 19617216 2018-03-05
Scoliosis skeletal 7 % 19617216 2018-03-05



List of references:


Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
S S Cathey, J G Leroy, T Wood, K Eaves, R J Simensen, M Kudo, R E Stevenson, M J Friez,



Journal of medical genetics - Jan 2010



The natural history and osteodystrophy of mucolipidosis types II and III.
Grace David-Vizcarra, Julie Briody, Jenny Ault, Michael Fietz, Janice Fletcher, Ravi Savarirayan, Meredith Wilson, Jim McGill, Matthew Edwards, Craig Munns, Melanie Alcausin, Sara Cathey, David Sillence,



Journal of paediatrics and child health - Jun 2010








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