Genitopatellar syndrome
GTPTS

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Prevalence (%) of clinical parameters based on data from 1 references describing 20 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 % 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 - 10 2021