Disease #03795 (ECTD11A (dysplasia, ectodermal, type 11A, hypohidrotic/hair/tooth, autosomal dominant (ECTD11A)), OMIM:614940)

Official abbreviation ECTD11A
Name dysplasia, ectodermal, type 11A, hypohidrotic/hair/tooth, autosomal dominant (ECTD11A)
OMIM ID 614940
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene EDARADD
Associated tissues -
Disease features -
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00043753 FamPatIII1 PubMed: Wohlfart 2016 3-generation family, 3 affected F - Germany - - 0 - - ECTD11A very thin, brittle, sparse or even absent hair, reduced sweating ability, dental panoramic radiographs confirmed absence considerable number permanent teeth (six upper jaw, eight lower jaw), bilateral amazia (unilateral amazia in mother, bilateral mature ovarian teratomas containing hair, sebaceous and sweat glands EDARADD EDARADD 1 1 Sigrun Maier-Wohlfart
00057908 - PubMed: Cluzeau 2011 - F no France - >11y 0 - - ECTD11A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), dry skin (HP:0000958), abnormal nails (HP:0001597), palmoplantar keratoderma (HP:0000982) EDARADD EDARADD 1 1 Johan den Dunnen
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