Global Variome shared LOVD

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Phenotype #0000347747 Individual ID 00460021 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MRD7 Phenotype details see paper; ..., mild intellectual disability; intra-uterine growth retardation; febrile seizures; limited spacial skills, no speech; primary microcephaly; no slender posture; neonatal feeding problems; periods hyperextension neck; no bitemporal narrowing; large/simple ear, deep-set eyes, no pointed nose, micrognathia; no scoliosis/kyphosis, no pectus excavatum; MRI brain corpus callosum hypoplasia; inguinal hernia; no cardiac defect; no short distal phalanges Inheritance Isolated (sporadic) Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-17 15:29:01 +01:00 (CET) Date last edited N/A

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