Global Variome shared LOVD

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Phenotype #0000053398 Individual ID 00038521 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Hereditary hemorrhagic telangiectasia type 1 HHT1 (OMIM number #187300) with cutaneous telangiectasia Facial dysmorphism included asymmetric plagiocephaly, round face, high hairline at the temples, horizontal palpebral fissures, strabismus, low-set ears, wide saddle nose, bulbous nose, convex philtrum, thin lips, prominent cheeks, square chin, and a short, webbed neck Single transverse palmar crease, Dorso-lumbar hairy spot Growth delay (at 8y: weight< 3rd centile, length<<-3 SD, OFC<<-3 SD) Genital abnormalities: micropenis, hypoplastic scrotum, testicular ectopia Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Sophie Nambot Database submission license No license selected Created by Johan den Dunnen Date created 2016-06-17 11:04:40 +02:00 (CEST) Date last edited N/A

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