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Prevalence (%) of clinical parameters based on data from 2 references describing 6 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 |
| Micrognathia | skeletal | 100 % | 23144622 | 2014-04-10 | |
| Prominent nose | skeletal | 100 % | 23144622 | 2014-04-10 | |
| Dental crowding | skeletal | 100 % | 23144622 | 2014-04-10 | |
| Short stature | skeletal | 100 % | 23144622 | 2014-04-10 | |
| Absent ear lobes | integumentary | 100 % | 23144622 | 2014-04-10 | |
| Microcephaly | nervous | 100 % | 9128935 | 2014-04-10 | |
| Feeding difficulties | multi | 100 % | 9128935 | 2014-04-10 | |
| Failure to thrive | multi | 100 % | 9128935 | 2014-04-10 | |
| Developmental delay | nervous | 100 % | 9128935 | 2014-04-10 |
List of references:
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter, Katrina Prescott, Mohnish Suri, Philip J Byrd, Michiko Matsuse, Norisato Mitsutake, Yuka Nakazawa, Pradeep Vasudevan, Margaret Barrow, Grant S Stewart, A Malcolm R Taylor, Mark O'Driscoll, Penny A Jeggo,
PLoS genetics - 2012
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature.
A Shanske, D G Caride, L Menasse-Palmer, A Bogdanow, R W Marion,
American journal of medical genetics - May 1997