Phenotype #0000236425

Individual ID 00311170
Associated disease ?
Diagnosis/Initial microcephaly
Diagnosis/Definite -
Phenotype details see paper; ..., birth length 48 cm, weight 2700 g, OFC 27.5 cm; length 125.34 cm (-2.5 SD), OFC 39 cm (-10 SD); gingival hypertrophy; severe developmental delay/intellectual disability; MRI brain simplified gyral pattern; 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 10y6m (10 years, 6 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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