Phenotype #0000236424

Individual ID 00311169
Associated disease ?
Diagnosis/Initial microcephaly
Diagnosis/Definite -
Phenotype details see paper; ..., birth weight 2500 g, OFC 28.5 cm; length 122 cm (-4 SD), OFC 40 cm (-10 SD); gingival hypertrophy; severe developmental delay/intellectual disability; MRI brain simplified gyral pattern, dysgenesis of the corpus callosum; seizures (controlled), severe axial hypotonia, spastic tetraparesis, no language or communication; cortical visual impairment; severe scoliosis; feeding difficulties, G-tube; recurrent pneumonia
Inheritance Familial, autosomal dominant
Age/Examination 11y11m (11 years, 11 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-09-20 10:10:24 +02:00 (CEST)
Date last edited N/A

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