Global Variome shared LOVD

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Phenotype #0000236633 Individual ID 00311386 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight normal; height >2 SD, normal weight, OFC 1.76; developmental delay/intellectual disability, IQ73, DQ76, non verbal-95; gross motor delay, fine motor delay, walk-12m; speech delay, 1y-first words; autistic features, attention deficit hyperactivity disorder, anxiety, ddepression, behavioral difficulties; hypotonia; daytime sleepiness, poor sleep; bilateral high-frequency sensorineural hearing loss; strabismus, esotropia; slender fingers, lanky buildpiuh, hypermobility elbows; skin lichen sclerosus; slightly narrow and long face, normal forehead, normal eyes, normal ears, normal nose, microretrognathia; no gastrointestinal problems; MRI brain Chiari Type 1 malformation; ECG normal; renal ultrasound normal; chronic otitis media, obstructive sleep apnea (s/p T&A); intermittent staring spells (normal EEG); no family history Inheritance Isolated (sporadic) Age/Examination 11y (11 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 2020-09-24 16:15:46 +02:00 (CEST) Date last edited N/A

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