Global Variome shared LOVD

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Phenotype #0000106818 Individual ID 00134060 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details NDD, short stature, nasal speech, Full Scale IQ of 76 and an adaptive behavior score of 67 (Adaptive Behavior Assessment System-II). Dysmorphic features in Case 1. A and B: show prominent nose, full nasal tip, thick alae nasi, and long philtrum. C and D: show prominence of the proximal interphalangeal (PIP) joints in both hands. E: shows small fifth toenails. Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Eline van der Sluijs Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Eline van der Sluijs Date created 2017-11-24 11:17:43 +01:00 (CET) Date last edited 2017-12-04 17:11:01 +01:00 (CET)

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