Global Variome shared LOVD

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Phenotype #0000187390 Individual ID 00248395 Associated disease FDH Phenotype details IUGR Skull:microcephaly. Skin:pigmentation anomaly. Limb: ectrodactyly, syndactyly, oligodactyly, camptodactyly. Nail hypo-/a-/dys-plasia. Sparse hair. Hernia diaphragmatica. Hydronephrosis. Polysplenia. Internal and external genitalia anomaly. Cardiopathy. Cerebellar anomaly. Ribs anomaly. Clavicles anomaly. Pelvic anomaly. Scoliosis. Advance maturation. Diagnosis/Initial FDH Inheritance Familial, X-linked dominant Diagnosis/Definite FDH Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maria Paola Lombardi Database submission license No license selected Created by Maria Paola Lombardi Date created 2019-07-23 16:29:32 +02:00 (CEST) Date last edited N/A

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