Global Variome shared LOVD

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Phenotype #0000341650 Individual ID 00453006 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details abnormal pinna morphology; brachycephaly; constipation; deeply set eye; delayed speech and language development; diabetes mellitus; eeg abnormality; fine hair; gait disturbance; hypertelorism; intellectual disability; mandibular prognathia; precocious puberty in females; prominent nose; recurrent infections; scoliosis; short philtrum; strabismus; wide mouth Inheritance Isolated (sporadic) Age/Examination - 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 2024-08-12 19:43:45 +02:00 (CEST) Date last edited N/A

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