Global Variome shared LOVD

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

Phenotype #0000230377 Individual ID 00303301 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details height 126.5 cm (SD 1), weight 24.9kg (SD 0), OFC 52.8 cm (SD 0); mild developmental delay/intellectual disability (tIQ 91 WISC-V); 12m-walk; 16m-first words, speech delay; no regression; no seizures; autism, hyperactivity, aggression; no renal anomalies; no urogenital anomalies; no gastro-intestinal anomalies; kyphosis Inheritance Isolated (sporadic) Age/Examination 6y6m (6 years, 6 months) 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 2020-06-09 19:07:12 +02:00 (CEST) Date last edited 2020-08-08 22:55:54 +02:00 (CEST)

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