Global Variome shared LOVD

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Phenotype #0000292630 Individual ID 00399525 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details weight 12.3 (-1.5), height 88.9 ( -1.5), OFC 47.9 (-2); no growth failure; developmental/intellectual delay; 19m-walk; speech delay, 1.5y-first words, delayed speech, deleting beginning/ending of words, difficult to understand; hypotonia; no seizures, 2y-one seizure like activity (eye rolling up only, no loss of consciousness), EEG 24h normal, MRI notmal normal at 3y and since then; 2y-MRI brain normal; behavioural anomalies, uncooperative, autistic features; bicuspid aortic valve; astigmatism; no urogenital/kidney anomalies; hands bilateral 3,4 fingers syndactyly; normal feet; sacral dimple; no feeding difficulties; facial dysmorphism, frontal bossing; absence of the depressor anguli muscle; recurrent episodes of otitis media/ear infection; required adenoidectomy and placement of two sets of ear tubes, which induced secondary bilateral mild conductive hearing loss Inheritance Isolated (sporadic) Age/Examination 3y (3 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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