Phenotype #0000270211

Individual ID 00375001
Associated disease VERBRAS
Diagnosis/Initial Ververi-Brady syndrome
Diagnosis/Definite VERBRAS
Phenotype details see paper; ..., birth 38w, weight 2.4 kg (2nd-9th centile); height 114.4cm (−3 SD), weight 17.7kg (−4 SD), OFC 46cm (−6 SD); brachycephaly, upslanting palpebral fissures, prominent broad nose, broad nasal tip, wide mouth, thin upper lip, low-set cup-shaped ears; mild developmental delay/intellectual disability; walk-22m; speech first words 24-30m; no autism; 18m-raised CK 444 U/L
Inheritance Isolated (sporadic)
Age/Examination 09y04m (9 years, 4 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-28 08:55:16 +02:00 (CEST)
Date last edited N/A

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