Global Variome shared LOVD

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Phenotype #0000236636 Individual ID 00311389 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight normal, length normal, OFC normal; normal height, normal weight, OFC 0; developmental delay/intellectual disability, VIQ105, PIQ85; gross motor delay, fine motor delay, walk-24m; speech delay, 3y-first words; autism, attention deficit hyperactivity disorder; hypotonia; sleep problems; no hearing loss; myopia; joint hypermobility; normal skin; midface flattening, normal forehead, normal eyes, protruding ears, anteverted nares, mild micrognathia, long philtrum, thin upper lip, high palate; no gastrointestinal problems; MRI brain normal; benign nocturnal alternating hemiplegia of childhood; parents healthy, grandmother has migraine headaches Inheritance Isolated (sporadic) Age/Examination 12y (12 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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