Global Variome shared LOVD

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

Phenotype #0000093008 Individual ID 00117538 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite LAMSHF Phenotype details weight 3rd-10th, height 25th, OFC 3rd; moderate-severe intellectual disability; no speech, had 2 words at 5-6y but lost them; stereotypies (rocking, hand motions), avoids eye contact, occasional aggression; no hypotonia; no seizures; no brain malformations; strabismus; dysmorphic features, narrowed forehead, thick, hemmed ears; overlapping toes; normal back/spine; no heart defects; no genital abnormalities; thyroglossal duct cyst Inheritance Isolated (sporadic) Age/Examination 11y (11 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 19:42:00 +01:00 (CET) Date last edited 2024-01-31 16:37:09 +01:00 (CET)

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