Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000041509 Individual ID 00054851 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Mild ID (IQ65); speech delay; motor delay; anxiety; sleep disturbances; oral hypotonia; hypotonia; CVI; recurrent respiratory infections; brachydactyly; pedes plano valgi; fetal finger pads; hip dysplasia; simian crease; neonatal feeding difficulties; MRI: mild assymetrical frontotemporal hemisphere.; Born after 39+1w of gestation by ventouse extraction after uncomplicated pregnancy; Normal birth weight;; mild intellectual disability (HP:0001256); speech delay (HP:0000750) Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lisenka Vissers Database submission license No license selected Created by Lisenka Vissers Date created 2015-11-27 14:01:50 +01:00 (CET) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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