Disease #02221

Official abbreviation CPDX-1
Name chondrodysplasia punctata, type 1, X-linked recessive (CPDX-1)
OMIM ID 302950
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 56
Phenotype entries for this disease 56
Associated with 1 gene ARSE
Associated tissues -
Disease features -
Remarks -


Individuals

56 entries on 1 page. Showing entries 1 - 56.
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00114708 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114710 - - - M - - - - 0 - - CPDX-1 Respiratory insufficiency and feeding problems at birth. Nasal hypoplasia, single palmar crease and small tufted distal phalanges.; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114711 - - - M - - - - 0 - - CPDX-1 Midface hypoplasia, brachytelephalangy; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114712 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114713 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114717 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114719 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114720 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114721 - - - M - - - - 0 - - CPDX-1 Microcephaly, flat nose, short stature, puncta in the feet, hands and sacrum; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114728 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114729 - - brother of 0036 M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114730 - - female carrier, mother of 0036 M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114731 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114732 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114733 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114734 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114736 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, brachytelephalang; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114738 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114739 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, brachytelephalangy; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114740 - - - M - - - - 0 - - CPDX-1 No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met ARSE ARSE 1 1 Claudia Matos-Miranda
00114742 - - - M - - - - 0 - - CPDX-1 No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met ARSE ARSE 1 1 Claudia Matos-Miranda
00114743 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114744 - - - M - - - - 0 - - CPDX-1 Flat nose, brachytelephalangic chondrodysplasia, left school at 9 yo due to poor school perfomance. Maternal grandfather is positive for the same mutation but he is asymptomatic); CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114745 - - maternal grandfather of 0007 M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114747 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114749 - - - M - - - - 0 - - CPDX-1 No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met ; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114751 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114754 - - - M - - - - 0 - - CPDX-1 No detailed patient information was given. However it is mentioned that typical radiological and clinical features for CDPX1 were met ; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114756 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114759 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114760 - - maternal grandfather of 0050 M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114762 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114763 - - - M - - - - 0 - - CPDX-1 Flat nose, brachytelephalangic chondrodysplasia ; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114765 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114766 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114767 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114768 - - brother of 0061 M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114770 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114772 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114774 - - - M - - - - 0 - - CPDX-1 Calcification of larynx, joint contractures; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114776 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114778 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114779 - - - M - - - - 0 - - CPDX-1 Midface hypoplasia, brachytelephalangy, punctate calcifications at the X-ray skeletal survery ; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114780 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114781 - - brother of 0034 M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114782 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Gene Dx
00114784 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114786 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, brachytelephalangy, punctate calcifications at the X-ray skeletal survery and deafness; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114787 - - - M - - - - 0 - - CPDX-1 Neonatal death, facial dysmorphisms, brachytelephalangy, cararact, disseminated intravascular coagulopathy ; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114788 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114790 - - - M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114791 - - maternal uncle of 0012 M - - - - 0 - - CPDX-1 CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114795 - - - M - - - - 0 - - CPDX-1 Aborted fetus of 26 weeks with severe nasal hypoplasia, short hands and fingers. X-ray diffuse calcifications of epiphyses, spine and larynx. Absent fusion of the three primitive nasal stalks ; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114796 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, flat midface, brachytelephalangy, punctate calcifications at the X-ray skeletal survery. Multiple coronal clefts of vertebrae. Laryngeal calcifications ; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114797 - - - M - - - - 0 - - CPDX-1 Nasal hypoplasia, diffuse calcifications of trachea and bronchi. Recurrent and severe episodes of respiratory insufficiency ; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
00114798 - - - M - - - - 0 - - CPDX-1 Midface hypoplasia, brachytelephalangy, punctate calcifications at the X-ray skeletal survery ; CPDX1 ARSE ARSE 1 1 Claudia Matos-Miranda
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