Global Variome shared LOVD

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Phenotype #0000093009 Individual ID 00117539 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite LAMSHF Phenotype details weight 10th, height 10th, OFC 10th; intellectual disability (IQ 45-70); 2y-first word; 4y-2 word phrases; pervasive developmental delay/atypical autism, aggressive, mood instability; hypotonia face/lower limbs; no seizures; no brain malformations; dyspraxia, awkward gait; no ophthalmologic features; dysmorphic features, small, simple ears, low nasal bridge; high arched feet; butterfly vertebrae of thoracic spine; mild scoliosis; no heart defects; no genital abnormalities; chronic constipation Inheritance Isolated (sporadic) Age/Examination 15y06m (15 years, 6 months) 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 19:25:37 +01:00 (CET) Date last edited 2024-01-31 16:31:25 +01:00 (CET)

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