Phenotype #0000236421

Individual ID 00311166
Associated disease ?
Diagnosis/Initial microcephaly
Diagnosis/Definite -
Phenotype details see paper; ..., birth length 42 cm, weight 2190 g, OFC 28 cm (35w); length 92 cm (-4.8 SD), OFC 36.5 cm (-12 SD); prominent nasal root, protruding tongue; severe developmental delay/intellectual disability; MRI brain pachygyria, thin corpus callosum; spasticity limbs, inability to walk; no visual impairment; scoliosis; feeding difficulties; patent foramen ovale
Inheritance Isolated (sporadic)
Age/Examination 5y7m (5 years, 7 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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