Global Variome shared LOVD

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Phenotype #0000230297 Individual ID 00303213 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., mild developmental delay, mild intellectual disability; no muscular hypotonia; no delayed motor function skills; no speech impairment; absence seizures; EEG abnormal, frontal focus left; no reduced pain sensation, no self-mutilation, no crying without tears; no reduced sweating, no fever without focus/temperature dysregulation, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia, no growth hormone deficiency, no (pan)hypopituitarism; normal hemoglobin, no thrombocytopenia; no exocrine pancreatic insufficiency, no obstipation, no diarrhea; scoliosis; no hearing loss; no eye abnormalities; arcuate eyebrows; no behavior abnormalities; no increased intra- and extra-axial cerebrospinal fluid spaces, no delayed myelination, no pituitary anomalies; no genital abnormalities Inheritance Familial, autosomal recessive Age/Examination 19y (19 years) 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 2020-06-08 15:20:20 +02:00 (CEST) Date last edited 2020-08-23 10:07:17 +02:00 (CEST)

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