Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000297026 Individual ID 00404434 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 40w birth 40w , weight 2.5 kg (-2.03 SD); height 154 cm (-3.29 SD), weight 43 kg (-3.66 SD), OFC 52 cm (-3.07 SD); Focal epilepsy, since age 22 years; psychomotor delay, increasing cognitive delay, regression of speech, eventually severe intellectual disability; He looks much older than his calendar age/premature ageing of facial features, with excessive wrinkling for age; has to be stimulated to eat sometimes; premature ageing/wrinkling; difference in length of legs (7 mm); normal-mild hearing loss; vision 0.15, myopia (-3) cylinder (-2), alternating strabismus convergence; frequent infections (including bilateral pneumonia as a child, frequent ear infections); obstructive sleep apnea (diagnosed at age 50 yrs), premature aging - excessive wrinkling, baldness, similar to 80yr old parents Inheritance Isolated (sporadic) Age/Examination 52y (52 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 2022-03-02 10:20:20 +01:00 (CET) Date last edited N/A

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