Disease #01220 (CMPD (dysplasia, campomelic), OMIM:114290)

Official abbreviation CMPD
Name dysplasia, campomelic
OMIM ID 114290
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SOX9
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00058589 - - - F no Brazil - - 0 - - CMPD - COL2A1, SOX9 SOX9 1 1 Karina Silveira
00380395 184901 - - M no ? (unknown) - - 0 - - CMPD prenatal ultrasound abnormalities: Dysplastic sacrum, Micromelia, Hyperechogenic kidneys, Fetal cystic hygroma SOX9 SOX9 1 1 Andreas Laner
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