Global Variome shared LOVD

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Phenotype #0000272315 Individual ID 00377151 Associated disease LAMSHF Phenotype details Microcephaly, Abnormality of the pinna, Macrotia, Strabismus, Abnormal conjugate eye movement, Global developmental delay, Short foot, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the feet, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay, Decreased head circumference, Small hand Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite 2y Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-07-12 15:55:29 +02:00 (CEST) Date last edited 2021-07-21 14:26:51 +02:00 (CEST)

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