Global Variome shared LOVD

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Phenotype #0000250703 Individual ID 00332519 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details birth 39w, weight 3200g; weight 9.9 kg (7th %tile); length 81 cm (44th %tile); OFC 46.5 cm (19th %tile); infantile hypotonia; laryngomalacia; gastro-oesophageal reflux disease; recurrent pneumonia; serous otitis media; motor delay; speech delay; ECG normal; ophthalmology examination normal; dysmorphic features; epicanthal folds; hypertelorism; downslanting palpebral fissures; medially sparse eyebrows; high arched palate, submucous cleft; micrognathia; small, low set, posteriorly rotated ears; no single transverse palmar crease; no broad thumbs and first toes; no fifth finger clinodactyly; no hypoplastic nails; no hypospadias; no undescended testes Inheritance Isolated (sporadic) Age/Examination 18m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-19 19:14:15 +01:00 (CET) Date last edited N/A

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