Keppen-Lubinsky syndrome |
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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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 |
| Decreased subcutaneous fat | integumentary | 100 % | 25620207 | 2022-11-17 | |
| Short stature | skeletal | 100 % | 25620207 | 2022-11-17 | |
| Developmental delay | nervous | 67 % | 25620207 | 2022-11-17 | |
| Scoliosis | skeletal | 67 % | 25620207 | 2022-11-17 | |
| Proptosis | nervous | 67 % | 25620207 | 2022-11-17 | |
| Contracture | nervous | 67 % | 25620207 | 2022-11-17 | |
| Seizures | nervous | 67 % | 25620207 | 2022-11-17 | |
| Shallow orbits | skeletal | 67 % | 25620207 | 2022-11-17 | |
| Hypogonadism | reproductive | 33 % | 25620207 | 2022-11-17 | |
| Micrognathia | skeletal | 33 % | 25620207 | 2022-11-17 | |
| Skin wrinkles | integumentary | 33 % | 25620207 | 2022-11-17 | |
| Hypoplastic alae nasi | integumentary | 33 % | 25620207 | 2022-11-17 | |
| Narrow palate | skeletal | 33 % | 25620207 | 2022-11-17 | |
| Spasticity | nervous | 33 % | 25620207 | 2022-11-17 | |
| Respiratory distress | respiratory | 33 % | 25620207 | 2022-11-17 | |
| Respiratory failure | respiratory | 33 % | 25620207 | 2022-11-17 | |
| Recurrent infections | respiratory | 33 % | 25620207 | 2022-11-17 | |
| Gingival hypertrophy | integumentary | 33 % | 25620207 | 2022-11-17 | |
| Narrow nose | skeletal | 33 % | 25620207 | 2022-11-17 | |
| Beaked nose | skeletal | 33 % | 25620207 | 2022-11-17 | |
| Osteopenia | skeletal | 33 % | 25620207 | 2022-11-17 |
List of references:
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