Disease #05188 (LICS (lung disease, immunodeficiency, chromosome breakage syndrome (LICS)))

Official abbreviation LICS
Name lung disease, immunodeficiency, chromosome breakage syndrome (LICS)
OMIM ID -
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene NDNL2
Associated tissues brain;lung
Disease features lung disease, immunodeficiency, chromosome instability
Remarks -
Date created 2016-10-06 21:22:32 +02:00 (CEST)
Date last edited N/A


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00081331 - PubMed: Van Der Crabben 2016, Journal: Van Der Crabben 2016 9-generation family, unaffected heterozygous carrier parents (far-related), 2 affected sisters (deceased), patient A4 F - Netherlands european 00y12m - - - LICS see paper; ..., small for gestational age (HP:0001511), failure to thrive (HP:0001508), normocephaly, no microcephaly (-HP:0000252), eczema (HP:0000964), axial hypotonia (HP:0009062), increased infection susceptibility (HP:0002719), pneumonia (HP:0002090) interstitial (eosinophilic), multiple virus-induced pneumonia, no recurrent pneumonia (-HP:0006532), thymic hypoplasia (HP:0000777) NDNL2 NDNL2 1 2 Johan den Dunnen
00081332 - PubMed: Van Der Crabben 2016, Journal: Van Der Crabben 2016 sister of Pat4/GVH01 F - Netherlands european 00y14m - - - LICS see paper; ..., not small for gestational age (-HP:0001511), failure to thrive (HP:0001508), normocephaly, no microcephaly (-HP:0000252), eczema (HP:0000964), no axial hypotonia (-HP:0009062), increased infection susceptibility (HP:0002719), pneumonia (HP:0002090) interstitial (eosinophilic), multiple virus-induced pneumonia, no recurrent pneumonia (-HP:0006532) NDNL2 NDNL2 1 1 Johan den Dunnen
00081333 - PubMed: Van Der Crabben 2016, Journal: Van Der Crabben 2016 2-generation family, affected brother/sister (deceased), unaffected heterozygous carrier parents, patient M no United States european 00y14m - - - LICS see paper; ..., not small for gestational age (-HP:0001511), failure to thrive (HP:0001508) severe, normocephaly, no microcephaly (-HP:0000252), no eczema (-HP:0000964), no axial hypotonia (-HP:0009062), increased infection susceptibility (HP:0002719), pneumonia (HP:0002090) interstitial (eosinophilic), no recurrent pneumonia (-HP:0006532), thymic hypoplasia (HP:0000777) NDNL2 NDNL2 2 2 Johan den Dunnen
00081334 - PubMed: Van Der Crabben 2016, Journal: Van Der Crabben 2016 sister of 11179-05 F - United States european 00y32m - - - LICS see paper; ..., not small for gestational age (-HP:0001511), failure to thrive (HP:0001508) severe, normocephaly, no microcephaly (-HP:0000252), no eczema (-HP:0000964), no axial hypotonia (-HP:0009062), increased infection susceptibility (HP:0002719), pneumonia (HP:0002090) interstitial (eosinophilic), no recurrent pneumonia (-HP:0006532), thymic hypoplasia (HP:0000777) NDNL2 NDNL2 2 1 Johan den Dunnen
00081335 - van der Crabben NVHG 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Netherlands - - - - - LICS ? NDNL2 NDNL2 1 1 Johan den Dunnen
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