Global Variome shared LOVD

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Phenotype #0000337088 Individual ID 00447896 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite LAMSHF Phenotype details failure to thrive (resolved); weight <3rd (22m), height NS, OFC 25th (22m); moderate global developmental delay; severe speech delay; 4y-no words; no behavior problems; truncal hypotonia; no seizures; prominent subarachnoid space; blue sclerae; strabismus; no dysmorphic features, mild frontal bossing; normal hands/feet; normal back/spine; no heart defects; no genital abnormalities; mother short stature, borderline microcephaly, moderate intellectual disability, 8y-did not speak Inheritance Familial, autosomal dominant Age/Examination 4y (4 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 2024-01-31 22:02:27 +01:00 (CET) Date last edited N/A

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