Global Variome shared LOVD

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Phenotype #0000321944 Individual ID 00431344 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; short stature; mild/moderate developmental delay; 9m-sit; 24m-walk; 20m-first words, language delay, speak short sentences; school special education; no signs of puberty; mild/moderate intellectual disability; mild dysmorphism; hypotonia; no spasticity/hypertonia; no movement disorder; aggressivity hyperactivity, impulsivity, separation anxiety; seizures; MRI brain abnormal; abdominal ultrasound normal; external tibial torsion, femoral retrotorsion; normal reproductive organs; strabismus (right esotropia), post surgical repair Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-09 10:08:23 +01:00 (CET) Date last edited N/A

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