Global Variome shared LOVD

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Phenotype #0000016197 Individual ID 00017841 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, X-linked recessive Phenotype details see paper; PatII2 (30y) moderate ID, autistic-like behavior extraverted, aggressive, language/motor delay, large hands, big ears, long face, synophrys; PatII3 (43y) mild ID, no major behavioral problems, autistic-like behavior, language/motor delay, facial dysmorphism, big ears, round face, neurological examination normal; PatIII2 (female, 10y) ID needing special care Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Pierre Billuart Database submission license No license selected Created by Pierre Billuart Date created 2014-07-04 16:44:57 +02:00 (CEST) Date last edited 2015-01-25 12:00:10 +01:00 (CET)

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