Basilicata-Akhtar syndrome
MRXSBA

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Prevalence (%) of clinical parameters based on data from 1 references describing 16 individuals







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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%)
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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 % 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 - 10 2018