Assistente RarasDescreva sintomas, busque uma doença ou conte sua história. Eu pesquiso em 10.468 doenças raras.
Raras pode cometer erros. Não substitui orientação médica profissional.
Nenhum ensaio clínico registrado para esta condição.
Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.
DNA methylation episignature in Gabriele-de Vries syndrome.
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.