Rahman syndrome

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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 % 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
Scaphocephaly 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 ├Ľunap, 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