Disease #01298 (ECTD10A (dysplasia, ectodermal, type 10A, hypohidrotic/hair/nail, autosomal dominant (ECTD10A)), OMIM:129490)

Official abbreviation ECTD10A
Name dysplasia, ectodermal, type 10A, hypohidrotic/hair/nail, autosomal dominant (ECTD10A)
OMIM ID 129490
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene EDAR
Associated tissues -
Disease features -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00057899 - PubMed: Cluzeau 2011 - F no France - - 0 - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), facial dysmorphism (HP:0001999) EDAR EDAR 1 1 Johan den Dunnen
00057900 - PubMed: Cluzeau 2011 PubMed: Cluzeau 2011 M no - Sefarad >17y 0 - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), facial dysmorphism (HP:0001999) EDAR EDAR 1 1 Johan den Dunnen
00057901 - PubMed: Cluzeau 2011 - M yes Algeria - >34y 0 - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), dry skin (HP:0000958) EDAR EDAR 1 1 Johan den Dunnen
00057903 - PubMed: Cluzeau 2011 - F no Portugal - >37y 0 - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966); autosomal dominant case EDAR EDAR 1 1 Johan den Dunnen
00057905 - PubMed: Cluzeau 2011 - F no - Sefarad >10y 0 - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), dry skin (HP:0000958), eczema (HP:0000964) EDAR EDAR 1 1 Johan den Dunnen
00057906 - PubMed: Cluzeau 2011 - M yes Portugal - >06y 0 - - ECTD10A sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966) EDAR EDAR 1 1 Johan den Dunnen
00058499 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - ECTD10A hypohidrotic ectodermal dysplasia EDAR EDAR 1 1 Sigrun Maier-Wohlfart
00058500 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - ECTD10A hypohidrotic ectodermal dysplasia EDAR EDAR 1 1 Sigrun Maier-Wohlfart
00299797 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - ECTD10A hypohidrotic ectodermal dysplasia EDAR EDAR 1 1 Sigrun Maier-Wohlfart
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