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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 % | 31447100 | 2019-09-29 | |
| Bossed forehead | skeletal | 93 % | 31447100 | 2019-09-29 | |
| Hypertelorism | skeletal | 91 % | 31447100 | 2019-09-29 | |
| Hypotonia | nervous | 73 % | 31447100 | 2019-09-29 | |
| Macrocephaly | skeletal | 63 % | 31447100 | 2019-09-29 | |
| Feeding difficulties | digestive | 60 % | 31447100 | 2019-09-29 | |
| Low set ears | skeletal | 57 % | 31447100 | 2019-09-29 | |
| Dolichocephaly | skeletal | 54 % | 31447100 | 2019-09-29 | |
| Strabismus | nervous | 53 % | 31447100 | 2019-09-29 | |
| Alopecia | integumentary | 50 % | 31447100 | 2019-09-29 | |
| Autism | nervous | 36 % | 31447100 | 2019-09-29 | |
| Hearing loss | nervous | 36 % | 31447100 | 2019-09-29 | |
| Skin pigmentation changes | integumentary | 33 % | 31447100 | 2019-09-29 | |
| Nail dystrophy | integumentary | 30 % | 31447100 | 2019-09-29 | |
| Hypodontia | skeletal | 30 % | 31447100 | 2019-09-29 | |
| Advanced bone age | skeletal | 20 % | 31447100 | 2019-09-29 |
List of references:
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Elisabetta Flex, Simone Martinelli, Anke Van Dijck, Andrea Ciolfi, Serena Cecchetti, Elisa Coluzzi, Luca Pannone, Cristina Andreoli, Francesca Clementina Radio, Simone Pizzi, Giovanna Carpentieri, Alessandro Bruselles, Giuseppina Catanzaro, Lucia Pedace, Evelina Miele, Elena Carcarino, Xiaoyan Ge, Chieko Chijiwa, M E Suzanne Lewis, Marije Meuwissen, Sandra Kenis, Nathalie Van der Aa, Austin Larson, Kathleen Brown, Melissa P Wasserstein, Brian G Skotko, Amber Begtrup, Richard Person, Maria Karayiorgou, J Louw Roos, Koen L Van Gassen, Marije Koopmans, Emilia K Bijlsma, Gijs W E Santen, Daniela Q C M Barge-Schaapveld, Claudia A L Ruivenkamp, Mariette J V Hoffer, Seema R Lalani, Haley Streff, William J Craigen, Brett H Graham, Annette P M van den Elzen, Daan J Kamphuis, Katrin Õunap, Karit Reinson, Sander Pajusalu, Monica H Wojcik, Clara Viberti, Cornelia Di Gaetano, Enrico Bertini, Simona Petrucci, Alessandro De Luca, Rossella Rota, Elisabetta Ferretti, Giuseppe Matullo, Bruno Dallapiccola, Antonella Sgura, Magdalena Walkiewicz, R Frank Kooy, Marco Tartaglia,
American journal of human genetics - Sep 2019