Arboleda-Tham syndrome
ARTHS

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Prevalence (%) of clinical parameters based on data from 1 references describing 76 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 % 30245513 2022-01-09
Speech delay nervous 100 % 30245513 2022-01-09
Bulbuos nasal tip skeletal 85 % 30245513 2022-01-09
Feeding difficulties nervous 78 % 30245513 2022-01-09
Hypotonia nervous 76 % 30245513 2022-01-09
Thin lips integumentary 67 % 30245513 2022-01-09
Visual acuity decrease nervous 63 % 30245513 2022-01-09
Vomiting digestive 60 % 30245513 2022-01-09
Strabismus nervous 54 % 30245513 2022-01-09
Constipation digestive 51 % 30245513 2022-01-09
Recurrent infections circulatory 47 % 30245513 2022-01-09
Sleep disturbances nervous 37 % 30245513 2022-01-09
Atrial septum defect circulatory 34 % 30245513 2022-01-09
Microcephaly nervous 31 % 30245513 2022-01-09
Autism nervous 25 % 30245513 2022-01-09
Ptosis nervous 16 % 30245513 2022-01-09
Seizures nervous 9 % 30245513 2022-01-09
Ventricular septal defects circulatory 8 % 30245513 2022-01-09



List of references:


KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tiong Yang Tan, Patrick Yap, Zornitza Stark, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Ellen Macnamara, Jennifer L Murphy, Elizabeth McCormick, Hakon Hakonarson, Marni J Falk, Dong Li, Patrick Blackburn, Eric Klee, Dusica Babovic-Vuksanovic, Susan Schelley, Louanne Hudgins, Sarina Kant, Bertrand Isidor, Benjamin Cogne, Kimberley Bradbury, Mark Williams, Chirag Patel, Helen Heussler, Celia Duff-Farrier, Phillis Lakeman, Ingrid Scurr, Usha Kini, Mariet Elting, Margot Reijnders, Janneke Schuurs-Hoeijmakers, Mohamed Wafik, Anne Blomhoff, Claudia A L Ruivenkamp, Esther Nibbeling, Alexander J M Dingemans, Emilie D Douine, Stanley F Nelson, , Maja Hempel, Tatjana Bierhals, Davor Lessel, Jessika Johannsen, Valerie A Arboleda, Ruth Newbury-Ecob,



Genetics in medicine : official journal of the American College of Medical Genetics - 04 2019