Global Variome shared LOVD

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Phenotype #0000307188 Individual ID 00415394 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details 40w-birth spontaneous vaginal, length 48 cm (-1.68), weight 2170 g (-3.09); hypotonia, failure to thrive; height 148cm (-2.28), weight 60Kg (+0.24)/ OFC: 48.5cm (-6.34), BMI 27.4 (1.59); severe intellectual disability; 8m-sit; 14m-stand; 18m-walk; not toilet trained; dependent for all cares; delayed speech, can speak few words and sing songs; not scholarized; autistic features; happy, <20y-aggressive; no sleep disturbances; no seizures; 35y-MRI brain/spinal normal; hypotonia; no hearing loss; bilateral keratoconus, retinitis pigmentosa, optic atrophy, 32y-corneal transplant; no pulmonary abnormalities; no cardiovascular abnormalities; constipation; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; high forehead, deeply set eyes, bulbous tip of the nose, short philtrum, prominent upper central incisors Inheritance Unknown Age/Examination 50y (50 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 2022-08-13 16:30:49 +02:00 (CEST) Date last edited N/A

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