Global Variome shared LOVD

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Phenotype #0000292631 Individual ID 00399526 Associated disease NDD Diagnosis/Initial Smith-Magenis syndrome Diagnosis/Definite - Phenotype details weight 48.6 (+0.5), height 149.4 (-2.5), OFC 56 (+1); growth failure; mild developmental/intellectual delay ; 18m-walk; speech delay, 3y-first words, speech delay; hypotonia; no seizures; behavioural anomalies, mild autism, attention deficit/hyperactivity disorder, Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), hyperactivity, tantrums, aggressive and impulsive actions, ‘lick and flip’, nail yanking, skin picking, self-hits, but no stereotypic behaviors; sleeping disorder; heart block; esotropia, strabismus; no urogenital/kidney anomalies; normal hands; normal feet; scoliosis; feeding difficulties; facial dysmorphism, coarse facial features with synophrys; frequent otitis media, precocious puberty, chronic constipation Inheritance Isolated (sporadic) Age/Examination 14y (14 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 2022-01-21 14:10:33 +01:00 (CET) Date last edited N/A

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