Global Variome shared LOVD

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Phenotype #0000233339 Individual ID 00307916 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., perinatal respiratory distress, hypotonia; severe global developmental delay; moderate muscular hypotonia; no seizures; EEG abnormal; ECG-reduced heart rate variability; no fever without focus/temperature dysregulation, neonatal repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia; low hemoglobin, no thrombocytopenia; no obstipation, no diarrhea; no skeletal features; no hearing loss; no eye abnormalities; broad forehead, micrognathia,, prominent ear helix; no increased intra- and extra-axial cerebrospinal fluid spaces, no delayed myelination, no pituitary anomalies; undescended testis Inheritance Familial, autosomal recessive Age/Examination 00y01m (1 month) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-23 08:54:46 +02:00 (CEST) Date last edited 2020-08-23 10:06:58 +02:00 (CEST)

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