Global Variome shared LOVD

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Phenotype #0000084338 Individual ID 00106525 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Moderate (IQ 54), aggression and distractedness, disturbed sleep rhythm and sleeping problems, Speech/language delay Motor delay, Hypotonia, Microcephaly,MRI at age 4 years 8 months: periventricular white matter lesions, Long nasal bridge, small mouth and micrognathia, Cataract in right eye, hyperopia, Sandals' gap of both feet; moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); mild-moderate speech delay (HP:0000750) Age/Examination 07y11m (7 years, 11 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Bernt Popp Database submission license No license selected Created by Bernt Popp Date created 2017-07-02 23:36:16 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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