Seckel syndrome

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Prevalence (%) of clinical parameters based on data from 2 references describing 6 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
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