Global Variome shared LOVD

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Phenotype #0000093005 Individual ID 00117535 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite LAMSHF Phenotype details weight 25th-50th, height 75th, OFC 10th; moderate developmental delay; 3y-first words; autistic, hyperactivity; hypotonia; no seizures; short/thick corpus callosum; myopia; strabismus; no dysmorphic features; normal hands/feet; normal back/spine; congenital torticolis; no heart defects; no genital abnormalities; feeding difficulties Inheritance Isolated (sporadic) Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Blake Ballif Database submission license No license selected Created by Blake Ballif Date created 2011-12-23 20:40:07 +01:00 (CET) Date last edited 2024-01-31 17:12:34 +01:00 (CET)

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