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Prevalence (%) of clinical parameters based on data from 3 references describing 44 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 |
| 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
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
Takanobu Otomo, Takeshi Muramatsu, Tohru Yorifuji, Torayuki Okuyama, Hiroki Nakabayashi, Toshiyuki Fukao, Toshihiro Ohura, Makoto Yoshino, Akemi Tanaka, Nobuhiko Okamoto, Koji Inui, Keiichi Ozono, Norio Sakai,
Journal of human genetics - Mar 2009