Global Variome shared LOVD

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Phenotype #0000337239 Individual ID 00448050 Associated disease FANC Diagnosis/Initial Fanconi anemia Diagnosis/Definite FANCS Phenotype details see paper; ..., small for gestational age, 2y-short stature (-5.3 SD); microcephaly; micrognathia; upslanting palpebral fissures, epicanthus, strabismus; cupped ears; bitemporal narrowing; skin hyperpigmented, hypopigmented; mild intellectual disability; no bone marrow failure; clinodactyly, wide intermammillary distance, patent ductus arteriosus, micropenis, bilateral cryptorchidism; family breast cancer in 3rd degree relatives Inheritance Familial, autosomal dominant Age/Examination 02y (2 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 2024-02-11 14:37:17 +01:00 (CET) Date last edited N/A

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