Global Variome shared LOVD

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Phenotype #0000230295 Individual ID 00303211 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., severe global developmental delay; severe axial muscular hypotonia; no head support, no grasp, roll over functioning; speech delayed, single words; no seizures; EEG normal; ECG-no reduced heart rate variability; fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; no growth hormone deficiency; no (pan)hypopituitarism; low hemoglobin; thrombocytopenia; no exocrine pancreatic insufficiency; obstipation; no diarrhea; G-tube; no skeletal abnormalities; no genital abnormalities; no hearing loss; esotropia; no increased intra-and extra-axial cerebrospinal fluid spaces; delayed myelination; no pituitary anomalies Inheritance Familial, autosomal recessive Age/Examination 01y02m (1 year, 2 months) 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 10:56:48 +02:00 (CEST)

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