Epidermolysis bullosa and congenital skin fragility
Gene: DSPComment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, lethal acantholytic, 609638;Severe generalised Epidermolysis bullosa simplex;Skin fragility-woolly hair syndrome,607655;Lethal acantholytic epidermolysis bullosaCreated: 24 Mar 2021, 11:26 a.m. | Last Modified: 24 Mar 2021, 11:26 a.m.
Panel Version: 1.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe generalised Epidermolysis bullosa simplex
Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, OMIM:609638 to Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655
Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Skin fragility-woolly hair syndrome,607655; Lethal acantholytic epidermolysis bullosa to Epidermolysis bullosa, lethal acantholytic, OMIM:609638
gene: DSP was added gene: DSP was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Skin fragility-woolly hair syndrome,607655; Lethal acantholytic epidermolysis bullosa