Global Variome shared LOVD

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Phenotype #0000051313 Individual ID 00065205 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details autism (HP:0000729), microcephaly (HP:0000252), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750) Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-05-23 10:43:07 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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