Global Variome shared LOVD

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Phenotype #0000355435 Individual ID 00470286 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., intra-uterine growth retardation; birth 32w; premature birth; low birth weight (<2500g); single umbilical artery; preeclampsia; microcephaly; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; seizures; no hypotonia; loss of balance, cerebral palsy; no sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; cleft palate; no cardiac defect; no urogenital anomalies; kyphosis; no plagiocephaly; single palmar crease; no integumentary; normal teeth; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset <0d 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 10:24:36 +01:00 (CET) Date last edited N/A

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