Disease #02222

Official abbreviation CPDX-2
Name chondrodysplasia punctata, type 2, X-linked dominant (CPDX-2, Conradi-Hunermann syndrome)
OMIM ID 302960
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 30
Phenotype entries for this disease 30
Associated with 1 gene EBP
Associated tissues -
Disease features -
Remarks -


Individuals

30 entries on 1 page. Showing entries 1 - 30.
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00155196 - - diagnosis in utero F no France - - 0 - - CPDX-2 severe foetal form EBP EBP 1 1 Fabienne Dufernez
00155197 - - diagnosis in utero F no France - - 0 - - CPDX-2 severe foetal form EBP EBP 1 1 Fabienne Dufernez
00155198 - - diagnosis in utero F no France - - 0 - - CPDX-2 severe foetal form EBP EBP 1 1 Fabienne Dufernez
00155199 - - father germinal mosaicism, 2 foetus abortion, diagnosis in utero F no France - - 0 - - CPDX-2 severe foetal form EBP EBP 1 1 Fabienne Dufernez
00163788 - - - F no France - 00y09m 0 - - CPDX-2 typical skeletal features, ochtyosis and patchy alopecia EBP EBP 1 1 Fabienne Dufernez
00163789 - - - F no France - 00y09m 0 - - CPDX-2 typical skeletal features, ichtyosis and patchy alopecia EBP EBP 1 1 Fabienne Dufernez
00163790 - - - F no France - 21y 0 - - CPDX-2 typical skeletal features, ichtyosis and patchy alopecia EBP EBP 1 1 Fabienne Dufernez
00163791 - - - F no France - 00y01m 0 - - CPDX-2 typical skeletal features, ichtyosis and patchy alopecia EBP EBP 1 1 Fabienne Dufernez
00163792 - - - F no France - 00y01m 0 - - CPDX-2 several fetal form EBP EBP 1 1 Fabienne Dufernez
00163793 - - - - no France - 17y 0 - - CPDX-2 typical skeletal features, ichtyosis and patchy alopecia EBP EBP 2 1 Fabienne Dufernez
00163794 - - diagnosis in utero F no France - 00y00m00d 0 - - CPDX-2 diagnosis in utero EBP EBP 1 1 Fabienne Dufernez
00163795 - - dead 2y F no France - - 0 - - CPDX-2 severe fetal form EBP EBP 1 1 Fabienne Dufernez
00163796 - - diagnosis in utero F no France - - 0 - - CPDX-2 severe fetal form EBP EBP 1 1 Fabienne Dufernez
00163797 - - - F no France - 00y00m01d 0 - - CPDX-2 typical skeletal features, ichtyosis and patchy alopecia EBP EBP 1 1 Fabienne Dufernez
00163798 - - - F no France - 20y 0 - - CPDX-2 typical skeletal features, ichtyosis and patchy alopecia EBP EBP 1 1 Fabienne Dufernez
00163799 - - diagnosis in utero, 38 year-old mother F no France - - 0 - - CPDX-2 severe fetal form EBP EBP 1 1 Fabienne Dufernez
00163800 - - - F no France - 04y 0 - - CPDX-2 phenotype limited to skin, ichtyosis without skeletal features EBP EBP 1 1 Fabienne Dufernez
00163801 - - diagnosis in utero M no France - - 0 - - CPDX-2 severe fetal form EBP EBP 1 1 Fabienne Dufernez
00163802 - - - F no France - 15y 0 - - CPDX-2 phenotype limited to skin, ichtyosis without letal features EBP EBP 1 1 Fabienne Dufernez
00163803 - - - F no France - 12y 0 - - CPDX-2 typical skeletal features, ichtyosis and patchy alopecia EBP EBP 1 1 Fabienne Dufernez
00163804 - - - F no France - 02y 0 - - CPDX-2 phenoype limited to skin, ichtyosis without skeletal features EBP EBP 1 1 Fabienne Dufernez
00163805 - - - F no France - 00y01m 0 - - CPDX-2 phenotype limited to skin, ichtyosis without skeletal features EBP EBP 1 1 Fabienne Dufernez
00163806 - - - F no France - 00y01m 0 - - CPDX-2 typical skeletal features, ichtyosis and patchy alopecia EBP EBP 1 1 Fabienne Dufernez
00163807 - - diagnosis in utero F no France - - 0 - - CPDX-2 severe fetal form EBP EBP 1 1 Fabienne Dufernez
00163808 - - - F no France - 21y 0 - - CPDX-2 phenotype limited to skin, ichtyosis without skeletal features EBP EBP 1 1 Fabienne Dufernez
00163809 - - - F no France - - 0 - - CPDX-2 typical skeletal features, ichtyosis and patchy alopecia EBP EBP 1 1 Fabienne Dufernez
00163810 - - diagnosis in utero - no France - - 0 - - CPDX-2 phenotype limited to skin, ichtyosis without skeletal features EBP EBP 1 1 Fabienne Dufernez
00163811 - - diagnosis in utero F no France - - 0 - - CPDX-2 severe fetal form EBP EBP 1 1 Fabienne Dufernez
00163812 - - diagnosis in utero F no France - - 0 - - CPDX-2 severe fetal form EBP EBP 1 1 Fabienne Dufernez
00163813 - - - F no France - 10y 0 - - CPDX-2 phenotype limited to skin, ichtyosis without skeletal features EBP EBP 1 1 Fabienne Dufernez
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