Disease #00367 (ECTD3 (dysplasia, ectodermal, type 3 (ECTD-3, Witkop syndrome, tooth and nail syndrome)), OMIM:189500)

Official abbreviation ECTD3
Name dysplasia, ectodermal, type 3 (ECTD-3, Witkop syndrome, tooth and nail syndrome)
OMIM ID 189500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene MSX1
Associated tissues -
Disease features -
Remarks -
Date created 2014-04-08 21:57:47 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00016486 - PubMed: Jumlongras 2001 studied 3-generation family, 9 affected (4F, 5M), 11 unaffected and 132 controls F;M no United States - - - - - ECTD3 aplasia/hypoplasia nails (HP:0008386), abnormal number of teeth (HP:0006483) 11-28 congenitally missing permanent teeth (oligodontia), dysplastic toenails and/or fingernails, normal sweat glands, normal hair MSX1 MSX1 1 9 Elaine Lustosa Mendes
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