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Chondrodysplasia punctata 1, X-Linked

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Prevalence of clinical parameters (%)

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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
Nasal hypoplasia skeletal 100 % 23470839 2014-04-23
Midfacial hypoplasia skeletal 100 % 23470839 2014-04-23
Brachytelephalangy skeletal 100 % 23470839 2014-04-23
Chondrodysplasia punctata skeletal 92 % 23470839 2014-04-23
Failure to thrive multi 73 % 23470839 2014-04-23
Short stature skeletal 67 % 23470839 2014-04-23
Alar grooves skeletal 57 % 23470839 2014-04-23
Developmental delay nervous 56 % 23470839 2014-04-23
Conductive hearing loss skeletal 56 % 23470839 2014-04-23
Short limbs skeletal 43 % 23470839 2014-04-23
Cervical spine abnormality skeletal 40 % 23470839 2014-04-23
Reflux digestive 23 % 23470839 2014-04-23
Ichthyosis integumentary 7 % 23470839 2014-04-23

List of references:

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Claudia Matos-Miranda, Graeme Nimmo, Bradley Williams, Carolyn Tysoe, Martina Owens, Sherri Bale, Nancy Braverman,

The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia punctata 1 (CDPX1), which results from a deficiency of arylsulfatase E (ARSE). Historically, ARSE mutations have been identified in only 50% of male patients, and it was proposed that the remainder might represent phenocopies due to maternal-fetal vitamin K deficiency and maternal autoimmune diseases.

Genetics in medicine : official journal of the American College of Medical Genetics - Aug 2013

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