Disease #00870 (FGLDS1 (Feingold syndrome, type 1), OMIM:164280)

Official abbreviation FGLDS1
Name Feingold syndrome, type 1
OMIM ID 164280
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene MYCN
Associated tissues -
Disease features esophageal atresias, duodenal atresias, microcephaly, learning disability, syndactyly, cardiac defect
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2026-03-24 18:51:07 +01:00 (CET)


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00386956 family PubMed: Klaniewska 2021, 3-generation family, 5 affected (2 brothers/sister/mother/maternal grandfather) F;M - Poland - - - - - FGLDS1 see paper; ..., variable phenotype (5 affected); esophageal atresia, tracheoesophageal fistula; microcephaly; toe syndactyly; clinodactyly (1/5) - MYCN 1 5 Rafał Płoski
00474698 367091 - - F no Lebanon - - - - - FGLDS1 Delayed speech and language development, Short stature, Microcephaly, Ptosis, Brachydactyly, Toe clinodactyly, Abnormality of the face, Narrow palate, Macrotia MYCBP - - 1 Andreas Laner
00474699 367091 - - M no Lebanon - - - - - FGLDS1 Delayed speech and language development, Short stature, Microcephaly, Ptosis, Brachydactyly, Toe clinodactyly, Abnormality of the face, Narrow palate, Macrotia MYCN MYCN 1 1 Andreas Laner
00474793 patient PubMed: Lehman 2009 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - FGLDS1 see paper; ..., microcephaly (10m-OFC <3rd); mild generalized hypotonia; prominent metopic suture, ocular hypotelorism, low set ears, depressed nasal bridge, bilateral clinodactyly fifth fingers, cutaneous syndactyly multiple toes; bronchiolitis, otitis media, atopic dermatitis MYCN MYCN 1 1 Johan den Dunnen
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