Global Variome shared LOVD

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Phenotype #0000209182 Individual ID 00274237 Associated disease ? Diagnosis/Initial severe developmental delay Diagnosis/Definite CEBALID Phenotype details height 102.5 cm (-2 SD); weight 15.1 kg (-1.8 SD); OFC 50.7 cm (-0.2 SD); severe developmental delay; speech impairment; febrile convulsions; dolichocephaly; characteristic face; prominent forehead; flat face; thick eyebrow; high, arched eyebrow; widely spaced eyes; posteriorly rotated ears; low-set ears; depressed nasal bridge; depressed nasal ridge; short nose; anteverted nares; no cleft palate (narrow palate); no hypotonia; feeding difficulty; hyperphagia; MRI brain normal (6y4m) Inheritance Isolated (sporadic) Age/Examination 06y03m (6 years, 3 months) 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 2019-12-26 15:26:48 +01:00 (CET) Date last edited 2020-12-04 11:42:18 +01:00 (CET)

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