Global Variome shared LOVD

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Phenotype #0000209184 Individual ID 00274239 Associated disease ? Diagnosis/Initial severe developmental delay Diagnosis/Definite CEBALID Phenotype details height 151.2 cm (-1.3 SD); weight 50.4 kg (-0.3 SD); OFC 56.0 cm; severe developmental delay; speech impairment; no epilepsy; platystencephaly; characteristic face; no 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 (high arched palate); hypotonia; no feeding difficulty; hyperphagia; MRI brain polymicrogyria Inheritance Isolated (sporadic) Age/Examination 18y10m (18 years, 10 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 11:42:50 +01:00 (CET)

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