| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 20 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 % | 34519438 | 2022-01-09 | |
| Cryptorchidism | reproductive | 100 % | 34519438 | 2022-01-09 | |
| Feeding difficulties | digestive | 95 % | 34519438 | 2022-01-09 | |
| Ear malformation | integumentary | 89 % | 34519438 | 2022-01-09 | |
| Psychomotor retardation | nervous | 85 % | 34519438 | 2022-01-09 | |
| Hypotonia | nervous | 85 % | 34519438 | 2022-01-09 | |
| Bulbuos nasal tip | integumentary | 84 % | 34519438 | 2022-01-09 | |
| Long thumbs | skeletal | 79 % | 34519438 | 2022-01-09 | |
| Thin lips | integumentary | 75 % | 34519438 | 2022-01-09 | |
| Hypoplastic patella | skeletal | 75 % | 34519438 | 2022-01-09 | |
| Broad nasal bridge | skeletal | 74 % | 34519438 | 2022-01-09 | |
| Microcephaly | nervous | 70 % | 34519438 | 2022-01-09 | |
| Laryngomalacia | respiratory | 69 % | 34519438 | 2022-01-09 | |
| Contracture | skeletal | 68 % | 34519438 | 2022-01-09 | |
| Vomiting | digestive | 68 % | 34519438 | 2022-01-09 | |
| Ptosis | nervous | 61 % | 34519438 | 2022-01-09 | |
| Micrognathia | skeletal | 60 % | 34519438 | 2022-01-09 | |
| Hypermobile joints | skeletal | 60 % | 34519438 | 2022-01-09 | |
| Atrial septum defect | circulatory | 60 % | 34519438 | 2022-01-09 | |
| Constipation | digestive | 55 % | 34519438 | 2022-01-09 | |
| Corpus callosum thining | nervous | 50 % | 34519438 | 2022-01-09 | |
| Blepharophimosis | integumentary | 50 % | 34519438 | 2022-01-09 | |
| Masklike face | integumentary | 47 % | 34519438 | 2022-01-09 | |
| Hydronephrosis | urinary | 47 % | 34519438 | 2022-01-09 | |
| Fracture | skeletal | 44 % | 34519438 | 2022-01-09 | |
| Visual impairment | nervous | 41 % | 34519438 | 2022-01-09 | |
| Strabismus | nervous | 37 % | 34519438 | 2022-01-09 | |
| Hypothyroidism | endocrine | 33 % | 34519438 | 2022-01-09 | |
| Hearing loss | nervous | 32 % | 34519438 | 2022-01-09 | |
| Hypoplastic labia minora | reproductive | 27 % | 34519438 | 2022-01-09 | |
| Seizures | nervous | 25 % | 34519438 | 2022-01-09 | |
| Anal atresia | digestive | 16 % | 34519438 | 2022-01-09 |
List of references:
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F Palafox, Angela Wei, Kathryn Elliott, Dana H Goodloe, S Joy Dean, Catherine Gooch, Brianna K Murray, Erin Swartz, Samantha A Schrier Vergano, Meghan C Towne, Kimberly Nugent, Elizabeth R Roeder, Christina Kresge, Beth A Pletcher, Katheryn Grand, John M Graham, Ryan Gates, Natalia Gomez-Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J Benke, Julie S Cohen, Ali Fatemi, Weiyi Mu, Kristin W Baranano, Jill A Madden, Cynthia S Gubbels, Timothy W Yu, Pankaj B Agrawal, Mary-Kathryn Chambers, Chanika Phornphutkul, John A Pugh, Kate A Tauber, Svetlana Azova, Jessica R Smith, Anne O'Donnell-Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N Schweitzer, Valerie A Arboleda,
Molecular genetics & genomic medicine - Oct 2021