Disease #00649

Official abbreviation -
Name SC phocomelia syndrome
OMIM ID 269000
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ESCO2
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00112168 - PubMed: Schule 2005 - F - Germany - - 0 - - SC phocomelia syndrome Family 2 ESCO2 ESCO2 2 1 Birgitt Schuele
00112175 - PubMed: Schule 2005 - M - - Caucasian - 0 - - SC phocomelia syndrome Family 1 ESCO2 ESCO2 2 1 Birgitt Schuele
00112195 - PubMed: Schule 2005 - M - - African-American - 0 - - SC phocomelia syndrome Family 3 ESCO2 ESCO2 1 1 Birgitt Schuele
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