Global Variome shared LOVD

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

Phenotype #0000347599 Individual ID 00459521 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC 69th; no short stature; no intellectual disability; developmental delay, speech delay, 18-24m-1st words, now 100 words, no full sentences, mild motor delays, 9m-sit, 16m- walk, parental concerns with coordination; mild-moderate autism spectrum disorder; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms Inheritance Unknown Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-06 10:01:48 +01:00 (CET) Date last edited N/A

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