Global Variome shared LOVD

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Phenotype #0000058845 Individual ID 00079118 Associated disease CRS Phenotype details Flat mid-face, down-slanting palpebral fissures, low set ears, facial asymmetry, retracted pre-maxilla, right choanal stenosis, micrognathia, peg-like teeth with conical incisors, absent lateral incisors, pectus excavatum, scoliosis, long palms, slight digital shortening, mild 4/5 syndactyly of toes, Chiari malformation, moderate - severe learning difficulties. Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Kerry Miller Database submission license No license selected Created by Kerry Miller Date created 2016-08-03 10:37:32 +02:00 (CEST) Date last edited 2016-08-05 11:35:17 +02:00 (CEST)

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