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Prevalence (%) of clinical parameters based on data from 1 references describing 16 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 % | 30224647 | 2022-01-08 | |
| Feeding difficulties | nervous | 93 % | 30224647 | 2022-01-08 | |
| Hypotonia | nervous | 88 % | 30224647 | 2022-01-08 | |
| Spasticity | nervous | 81 % | 30224647 | 2022-01-08 | |
| Ear malformation | integumentary | 75 % | 30224647 | 2022-01-08 | |
| Ataxia | nervous | 69 % | 30224647 | 2022-01-08 | |
| Epicanthal fold | integumentary | 69 % | 30224647 | 2022-01-08 | |
| Thick hair | integumentary | 62 % | 30224647 | 2022-01-08 | |
| Downward sloping palpebral apertures | skeletal | 62 % | 30224647 | 2022-01-08 | |
| Downturned corners of mouth | integumentary | 56 % | 30224647 | 2022-01-08 | |
| Hyperactive reflexes | nervous | 50 % | 30224647 | 2022-01-08 | |
| Broad nasal bridge | skeletal | 46 % | 30224647 | 2022-01-08 | |
| Short limbs | skeletal | 31 % | 30224647 | 2022-01-08 |
List of references:
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
M Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, Claudia Isabelle Keller Valsecchi, Tuğçe Aktaş, Yannis Duffourd, Tobias Rumpf, Jenny Morton, Iben Bache, Witold G Szymanski, Christian Gilissen, Olivier Vanakker, Katrin Õunap, Gerhard Mittler, Ineke van der Burgt, Salima El Chehadeh, Megan T Cho, Rolph Pfundt, Tiong Yang Tan, Maria Kirchhoff, Björn Menten, Sarah Vergult, Kristin Lindstrom, André Reis, Diana S Johnson, Alan Fryer, Victoria McKay, , Richard B Fisher, Christel Thauvin-Robinet, David Francis, Tony Roscioli, Sander Pajusalu, Kelly Radtke, Jaya Ganesh, Han G Brunner, Meredith Wilson, Laurence Faivre, Vera M Kalscheuer, Julien Thevenon, Asifa Akhtar,
Nature genetics - Oct 2018