Global Variome shared LOVD

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Phenotype #0000330500 Individual ID 00440588 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 40w; MRI brain bilateral brain atrophy, focal cortical dysplasia; no cardiac anomalies; no hypotonia; no urogenital anomalies; no hearing loss; mild global developmental delay; only a few words; microcephaly (n/d); 4m-head control, 6m-crawle, 18m-walk unsteadily; no seizures; pneumonias; feeding difficulties, poor sucking, diarrhea; no hematologic problems; subclinical hypothyroidism; no abnormalities hand/feet; small eye fissure and wide eye distance,wide nasal bridge and nostrils up; no ophthalmological anomalies; Inheritance Isolated (sporadic) Age/Examination 4y (4 years) 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 2023-11-04 14:53:49 +01:00 (CET) Date last edited N/A

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