Disease #01211 (BDA1 (brachydactyly, type A1 (BDA1)), OMIM:112500)

Official abbreviation BDA1
Name brachydactyly, type A1 (BDA1)
OMIM ID 112500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 3
Phenotype entries for this disease 1
Associated with 1 gene IHH
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-04-03 12:20:16 +02:00 (CEST)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00295493 - - - F - China - - - - - BDA1 The proband (Ⅳ-2) was a 30-year-old female, who presented with mild disproportionate short stature with a Height Standard Deviation Score (HSDS) of -2.4SD. The radiograph of her hands showed varying degrees of shortening of the middle phalanx of the second to fifth fingers, and the middle phalanges in digit five was fused to the terminal phalanx as only one interdigital joint was visible. IHH IHH 1 1 Yangqi
00377091 - - - - - - - - - - - BDA1, BDC - GDF5 GDF5 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00418578 - - - - - - - - - - - BDA1 - IHH IHH 1 1 Gemeinschaftspraxis für Humangenetik Dresden
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