Global Variome shared LOVD

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

Phenotype #0000093007 Individual ID 00117537 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite LAMSHF Phenotype details weight 72nd, height 71st, OFC NS; motor delays, Bayley III scores (30m): composite 16th percentile, motor 12th; speech delay, Bayley III language score 6th percentile; no behavior problems; no hypotonia; no seizures; left intermittent esotropia, astigmatism; no dysmorphic features, epicanthal folds; normal hands/feet; normal back/spine; no heart defects; hypopigmentation of labia Inheritance Unknown Age/Examination 04y03m (4 years, 3 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 20:11:17 +01:00 (CET) Date last edited 2024-01-31 16:42:45 +01:00 (CET)

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