Global Variome shared LOVD

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Phenotype #0000317893 Individual ID 00426739 Associated disease - Phenotype details operation for an atrial septal defect (ASD) at 4 months. She also had an inguinal hernia which was repaired at age 12 months. She was never able to sit, stand, walk or speak; severe growth retardation, severe secondary microcephaly and short stature; prominent eyes, broad nasal bridge, hypertelorism, low set ears, micrognathia and large ears. She had severe psychomotor delay and contractures in the upper and lower extremities. She also had a foot deformity, overriding toes and clasped hands Diagnosis/Initial Bohring-Opitz syndrome (BOS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-12-02 14:17:29 +01:00 (CET) Date last edited N/A

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