Global Variome shared LOVD

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Phenotype #0000337231 Individual ID 00448042 Associated disease FANC Diagnosis/Initial Fanconi anemia Diagnosis/Definite FANCS Phenotype details see paper; ..., 25y-deceased; short stature (-4.35 SD adult); microsomia; microcephaly; narrow palate, malocclusion; upslanting palpebral fissures, blepharoph-imosis, epicanthus, strabismus, hypertelorism, microphthalmia; conductive hearing loss; sparse hair, broad nasal bridge/tip; skin hyperpigmented, hypopigmented; mild intellectual disability; no bone marrow failure; proximally inserted thumbs, 2nd digit camptodactyly, 2–3 toe syndactyly, duodenal stenosis, hip dislocation, enlarged left kidney; 23y-ductal breast carcinoma; tolerated chemotherapy normally (docetaxel, fluorouracil-epirubicin-cyclophosph-amide); family 6 cancer cases (3F, 3M) Inheritance Familial, autosomal recessive Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-10 19:11:04 +01:00 (CET) Date last edited 2024-02-10 19:16:23 +01:00 (CET)

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