Disease #02515

Official abbreviation -
Name dysplasia, ectodermal, skin fragility syndrome
OMIM ID 604536
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 0
Associated with 1 gene PKP1
Associated tissues -
Disease features -
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Individuals

1 entry on 1 page. Showing entry 1.
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00037749 - PubMed: Martin HC et al 2014 Early-onset epilepsy with a burst-suppression EEG, consistent with Otahara syndrome. M ? ? (unknown) Western African - 0 - - dysplasia, ectodermal, skin fragility syndrome - PIGQ PIGQ 1 1 Philippe Campeau
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