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Prevalence (%) of clinical parameters based on data from 1 references describing 76 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 % | 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 impairment | 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 - Apr 2019