Global Variome shared LOVD

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Phenotype #0000223018 Individual ID 00289406 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth 39w, weight 2.409kg (3rd), head 33.5cm (10th-25th); height 77cm (10th-25th), weight 8.8kg (-2.3SD), head 40.5cm (-5SD); no prenatal anomalies; congenital microcephaly; jaundice that selfresolved, respiratory difficulties requiring tracheostomy; motor delay; walk-~36m; speech delay; 6y-vocalising; severe intellectual disability; autoagression; narrow forehead, low anterior hairline; normal ears; highly arched eyebrows, synophrys, long eyelashes, epicanthus, telecanthus, narrow palpebral fissures; wide and bulbous nasal tip, underdeveloped nasal alae; flat philtrum; pointed chin; normal hands; normal feet; bilateral hearing loss; bilateral optic nerve hypoplasia; no cardiovascular abnormality; 3m-tracheostomy; 3m-gastrostomy; bilateral vesicoureteric reflux; no skin abnormality; no endocrine abnormality Inheritance Isolated (sporadic) Age/Examination 10y (10 years) Age/Diagnosis 16m 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 2020-03-08 16:45:25 +01:00 (CET) Date last edited N/A

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