Global Variome shared LOVD

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Phenotype #0000345749 Individual ID 00457256 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 40w, SVD, weight 2725 g (9%), height 49 cm (42%), OFC 31 cm (-3 SD); no neonatal jaundice; 3y-walk; 2y-single words; global developmental delay; arched eyebrows; hypotelorism; prominent philtrum; no thin upper lip; everted lower lip; prognathia; open mouth; frontal bossing, long eyelashes, large mouth, sagged cheeks; intellectual disability; mild hepatomegaly; no liver dysfunction; intractable itching (pruritus); feeding difficulty; no gallstones; Inheritance Familial, autosomal recessive Age/Examination 13y (13 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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