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Prevalence (%) of clinical parameters based on data from 4 references describing 21 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 |
| Beaked nose | skeletal | 100 % | 2309787 | 2022-11-17 | |
| Midfacial hypoplasia | skeletal | 100 % | 2309787 | 2022-11-17 | |
| Wide sutures | skeletal | 100 % | 2309787 | 2022-11-17 | |
| Clubbed fingers | skeletal | 100 % | 2309787 | 2022-11-17 | |
| Proptosis | nervous | 100 % | 2309787 | 2022-11-17 | |
| Bossed forehead | skeletal | 100 % | 30290151 | 2022-11-17 | |
| Bossed forehead | skeletal | 100 % | 2309787 | 2022-11-17 | |
| Narrow nose | skeletal | 100 % | 2309787 | 2022-11-17 | |
| Speech delay | nervous | 100 % | 2309787 | 2022-11-17 | |
| Short stature | skeletal | 100 % | 2309787 | 2022-11-17 | |
| Short stature | skeletal | 100 % | 8074143 | 2022-11-17 | |
| Vertebral anomalies | skeletal | 100 % | 8074143 | 2022-11-17 | |
| Vertebral anomalies | skeletal | 100 % | 2309787 | 2022-11-17 | |
| Brachydactyly | skeletal | 100 % | 2309787 | 2022-11-17 | |
| Brachydactyly | skeletal | 100 % | 8074143 | 2022-11-17 | |
| Wide anterior fontanel | skeletal | 100 % | 30290151 | 2022-11-17 | |
| Erlenmeyer flask deformity | skeletal | 100 % | 30290151 | 2022-11-17 | |
| Skeletal deformities | skeletal | 100 % | 30290151 | 2022-11-17 | |
| Prominent veins | circulatory | 100 % | 30290151 | 2022-11-17 | |
| Hip dysplasia | skeletal | 100 % | 30290151 | 2022-11-17 | |
| Bone dysplasia | skeletal | 100 % | 30290151 | 2022-11-17 | |
| Megaepiphyses | skeletal | 100 % | 30290151 | 2022-11-17 | |
| Microcephaly | nervous | 100 % | 8074143 | 2022-11-17 | |
| Intrauterine growth retardation | multi | 100 % | 8074143 | 2022-11-17 | |
| Dolichostenomelia | skeletal | 100 % | 8074143 | 2022-11-17 | |
| Cataract | nervous | 100 % | 8074143 | 2022-11-17 | |
| Club foot | skeletal | 100 % | 8074143 | 2022-11-17 | |
| Proptosis | nervous | 93 % | 30290151 | 2022-11-17 | |
| Hearing loss | nervous | 88 % | 30290151 | 2022-11-17 | |
| Neutropenia | circulatory | 88 % | 30290151 | 2022-11-17 | |
| Brachydactyly | skeletal | 86 % | 30290151 | 2022-11-17 | |
| Micrognathia | skeletal | 86 % | 30290151 | 2022-11-17 | |
| Developmental delay | nervous | 86 % | 30290151 | 2022-11-17 | |
| Vertebral anomalies | skeletal | 85 % | 30290151 | 2022-11-17 | |
| Speech delay | nervous | 82 % | 30290151 | 2022-11-17 | |
| Club foot | skeletal | 71 % | 30290151 | 2022-11-17 | |
| Ventricular enlargement brain | nervous | 67 % | 30290151 | 2022-11-17 | |
| Retinitis pigmentosa | nervous | 67 % | 30290151 | 2022-11-17 | |
| Narrow nose | skeletal | 57 % | 30290151 | 2022-11-17 | |
| Facial dysmorphism | multi | 57 % | 30290151 | 2022-11-17 | |
| Bluish sclerae | integumentary | 57 % | 30290151 | 2022-11-17 | |
| Hypertonia | nervous | 33 % | 25620207 | 2022-11-17 |
List of references:
A "new" skeletal dysplasia in two unrelated boys.
R A Saul, W G Wilson,
American journal of medical genetics - Mar 1990
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Carlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, David A Parry, Mariska Davids, Fulya Taylan, Prashant Sharma, Coleman T Turgeon, Bernardo Blanco-Sánchez, Bobby G Ng, Clare V Logan, Lynne A Wolfe, Benjamin D Solomon, Megan T Cho, Ganka Douglas, Daniel R Carvalho, Heiko Bratke, Marte Gjøl Haug, Jennifer B Phillips, Jeremy Wegner, Michael Tiemeyer, Kazuhiro Aoki, , , Ann Nordgren, Anna Hammarsjö, Angela L Duker, Luis Rohena, Hanne Buciek Hove, Jakob Ek, David Adams, Cynthia J Tifft, Tito Onyekweli, Tara Weixel, Ellen Macnamara, Kelly Radtke, Zöe Powis, Dawn Earl, Melissa Gabriel, Alvaro H Serrano Russi, Lauren Brick, Mariya Kozenko, Emma Tham, Kimiyo M Raymond, John A Phillips, George E Tiller, William G Wilson, Rizwan Hamid, May C V Malicdan, Gen Nishimura, Giedre Grigelioniene, Andrew Jackson, Monte Westerfield, Michael B Bober, William A Gahl, Hudson H Freeze,
American journal of human genetics - Oct 2018
Microcephalic osteodysplastic dysplasia.
J H Hersh, M R Joyce, J Spranger, E C Goatley, R S Lachman, S Bhatt, D L Rimoin,
American journal of medical genetics - Jul 1994
Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.
Andrea Masotti, Paolo Uva, Laura Davis-Keppen, Lina Basel-Vanagaite, Lior Cohen, Elisa Pisaneschi, Antonella Celluzzi, Paola Bencivenga, Mingyan Fang, Mingyu Tian, Xun Xu, Marco Cappa, Bruno Dallapiccola,
American journal of human genetics - Feb 2015