Global Variome shared LOVD

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Phenotype #0000355473 Individual ID 00470324 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., birth 38w; feeding difficulties; muscular hypotonia; develomental delay, intellectual disability; irritable infant, delayed eye contact/ delayed fixing and following; small periventricular cyst next to left lateral ventricle, otherwise normal; no eye anomalies; no urogenital anomalies; triangular face, thin upper lip and smooth philtrum, high arched palate, microcephaly; no congenital heart disease; rocker bottom feet, abnormal plantar and palmar creases. neurological abnormalities: axial hypotonia and peripheral hypertonia Inheritance Isolated (sporadic) Age/Examination 8m 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 2025-11-30 13:31:50 +01:00 (CET) Date last edited N/A

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