Disease #02375 (Traboulsi (Traboulsi syndrome (FDLAB)), OMIM:601552)

Official abbreviation Traboulsi
Name Traboulsi syndrome (FDLAB)
OMIM ID 601552
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ASPH
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-07-01 11:35:59 +02:00 (CEST)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00451694 ASPH-01 PubMed: Chen 2024, Journal: Chen 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes China Chinese - - - - Traboulsi Facial dysmorphic features were remarkable including long appearance, retrognathia, malar hypoplasia, and dental malocclusion.The lens was subluxated anteriorly with a shallow anterior chamber bilaterally. As is quantified by AS-OCT, the lens had reduced equatorial d ASPH ASPH 1 1 Wannan Jia
00451695 ASPH-02 PubMed: Chen 2024, Journal: Chen 2024 2-generation family, 1 affected, unaffected heterozygous parents M no China Chinese - - - - Traboulsi Facial dysmorphic features were remarkable including long appearance, retrognathia, and malar hypoplasia. Anteriorly dislocated micropherophakic lenses were observed. ASPH ASPH 2 1 Wannan Jia
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