Nestor-Guillermo progeria syndrome
Nestor-Guillermo progeria

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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
Short stature skeletal 100 % 21932319 2013-08-06
Facial dysmorphism skeletal 100 % 21932319 2013-08-06
Delayed closure of anterior fontanel skeletal 100 % 21932319 2013-08-06
Alopecia integumentary 100 % 21932319 2013-08-06
Micrognathia skeletal 100 % 21932319 2013-08-06
Decreased subcutaneous fat integumentary 100 % 21932319 2013-08-06
Skin pigmentation changes integumentary 100 % 21932319 2013-08-06
Hypoplastic or absent clavicles skeletal 100 % 21932319 2013-08-06
Thorax deformity skeletal 100 % 21932319 2013-08-06
Thin limbs skeletal 100 % 21932319 2013-08-06
Stiff joints skeletal 100 % 21932319 2013-08-06
Contracture skeletal 100 % 21932319 2013-08-06
Acro-osteolysis skeletal 100 % 21932319 2013-08-06
Osteoporosis skeletal 100 % 21932319 2013-08-06
Prominent scalp veins circulatory 100 % 21932319 2013-08-06
Scoliosis skeletal 100 % 21932319 2013-08-06
Nail dystrophy integumentary 100 % 21932319 2013-08-06
Weight loss multi 100 % 21932319 2013-08-06
Skin atrophy integumentary 100 % 21932319 2013-08-06
Hypoglycemia circulatory 50 % 21932319 2013-08-06



List of references:


Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
Rubén Cabanillas, Juan Cadiñanos, José A F Villameytide, Mercedes Pérez, Jesús Longo, José M Richard, Rebeca Alvarez, Noelia S Durán, Rafael Illán, Daniel J González, Carlos López-Otín,



American journal of medical genetics. Part A - Nov 2011