Disease #07204 (ASGD (dysgenesis, anterior segment))

Official abbreviation ASGD
Name dysgenesis, anterior segment
OMIM ID -
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2025-11-23 20:01:41 +01:00 (CET)
Date last edited 2025-11-26 23:03:04 +01:00 (CET)


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00469930 Fam1PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected parents M - United States Africa;non-Hispanic - - - - ASGD see paper; ..., aniridia, glaucoma - PAX6 1 1 Johan den Dunnen
00469931 Fam3PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected non-carrier mother M - United States white;non-Hispanic - - - - ASGD see paper; ..., Axenfeld-Rieger anomaly, glaucoma - FOXC1 1 1 Johan den Dunnen
00469932 Fam5PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected parents M - United States white;Hispanic - - - - ASGD see paper; ..., Peters anomaly (right eye); syndactyly of third and fourth toes in the left foot, vesicoureteral reflux, cleft lip and palate, nasolacrimal abnormalities - TP63 1 1 Johan den Dunnen
00469933 Fam6PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected parents F - United States white;Hispanic - - - - ASGD see paper; ..., bilateral Peters anomaly - BMP4 1 1 Johan den Dunnen
00469934 Fam8PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white;non-Hispanic - - - - ASGD see paper; ..., bilateral Peters anomaly - PXDN 2 1 Johan den Dunnen
00469935 Fam10PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white;Hispanic - - - - ASGD see paper; ..., bilateral Peters anomaly - B3GLCT 2 1 Johan den Dunnen
00469936 Fam11PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected parents F - United States white;Hispanic - - - - ASGD see paper; ..., Axenfeld-Rieger anomaly, glaucoma - FOXC1 1 1 Johan den Dunnen
00469937 Fam12PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected non-carrier parents M - United States white;Hispanic - - - - ASGD see paper; ..., microphthalmia, glaucoma; microdontia, underdeveloped alae nasi, syndactyly - GJA1 1 1 Johan den Dunnen
00469938 Fam14PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected parents M - United States white;Hispanic - - - - ASGD see paper; ..., bilateral Peters anomaly - CYP1B1 1 1 Johan den Dunnen
00469939 Fam18PatII1 PubMed: Thanikachalam 2020 2-generation family, 1 affected, unaffected parents M - United States white;Hispanic - - - - ASGD see paper; ..., bilateral Peters anomaly - FOXE3 1 1 Johan den Dunnen
00469989 GCUF06 PubMed: Rashid 2020 4-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - ASGD see paper; ..., congenital anterior segment dysgenesis, keratoconus, congenital bilateral corneal haze, microphthalmia - FOXE3 1 5 Johan den Dunnen
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