Global Variome shared LOVD

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Phenotype #0000236639 Individual ID 00311392 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight normal; normal height, normal weight, OFC -2.33; developmental delay/intellectual disability, IQ72 (VIQ78, PIQ 71); gross motor delay, fine motor delay, walk-18m; no speech delay; autism, no attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; myopia; pes planus; hypergimentary lesions on wrist and upper leg; normal face, normal forehead, normal eyes, “Floppy” ears, normal nose, thin upper lip; no gastrointestinal problems; left supernumerary nipple; recurrent ear infections; paternal female cousin with Noonan syndrome Inheritance Isolated (sporadic) Age/Examination 13y (13 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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