Phenotype #0000277163

Individual ID 00383378
Associated disease ?
Diagnosis/Initial 2y-bone fracture
Diagnosis/Definite -
Phenotype details birth 39w, no intra-uterine growth retardation or small for age at birth, weight 27th, height 35th, OFC 0.65; osteopenia; fractures; developmental delay; no intellectual disability, learning disability, ADHD; no spasticity, normal gait; no seizures; MRI brain focal cortical dysplasia
Inheritance Isolated (sporadic)
Age/Examination 9y (9 years)
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-09-29 09:23:06 +02:00 (CEST)
Date last edited N/A

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