Global Variome shared LOVD

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Phenotype #0000345748 Individual ID 00457255 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 42w, SVD, weight 2720 g (9%), height 48 cm (21%), OFC 35.5 cm (43%); no neonatal jaundice; 4y-walk; global developmental delay; normal eyebrows; hypotelorism; downslanting palpebral fissures; ptosis; prominent philtrum; no thin upper lip; tented mouth; everted lower lip; prognathia; open mouth; gum/alveolar hypertophy, high arched palate, single palm crease; intellectual disability; mild hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; gallstones; undescended testicles; MRI brain normal Inheritance Familial, autosomal recessive Age/Examination 23y (23 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 2024-11-04 09:10:12 +01:00 (CET) Date last edited N/A

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