Global Variome shared LOVD

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Phenotype #0000347610 Individual ID 00459533 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., height 2nd percentile, OFC 79th percentile; no behavioral problems; developmental delay; hypotonia, distal extremity tremor; EEG normal; MRI large perivascular space/neuroglial cyst; no muskuloskeletal anomalies; no cardiac anomalies; skin Café-au-lait macules; tapering fingers; wide distal phalanges; strawberry hemangioma; wide-based gait Inheritance Isolated (sporadic) Age/Examination 23m 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 2025-01-09 09:19:33 +01:00 (CET) Date last edited N/A

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