Global Variome shared LOVD

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Phenotype #0000079161 Individual ID 00100782 Associated disease ? Diagnosis/Initial microcephalic primordial dwarfism Diagnosis/Definite - Phenotype details microcephalic primordial dwarfism; birth 39w, weight 2580g (-1.7), OFC 22.86cm (-9.2), Length 45.72cm (-2.3); 11y OFC 42.9cm (-7.4), Length 127.7cm (-2.4). Mild (HP:0011342), Mesomelia(HP:0003027), Seizures (HP:0001250) in early childhood, laryngotracheomalacia(HP:0008755) & aspiration(HP:0002835) as infant, dental crowding(HP:0000678), astigmatism(HP:0000483), GORD(HP:0002020) Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 00y00m00d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Lynn Boekhoudt Database submission license No license selected Created by Lynn Boekhoudt Date created 2017-03-16 15:34:57 +01:00 (CET) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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