Phenotype #0000223731

Individual ID 00296264
Associated disease ?
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., birth weight 2,327g; weight 10.38kg (−1.8 SD), length 82.8cm (−1.5 SD.), OFC 45cm (−1.8 SD); no congenital malformations; intellectual disability; motor developmental delay; speech delay, no words; no behavioral disorders ; no stereotypic movements; hypotonia; no seizures; spasticity/ataxic gait; no frequent laughter; no attraction with water; no feeding difficulties; MRI brain Chiari malformation, type 1
Inheritance Isolated (sporadic)
Age/Examination 2y2m (2 years, 2 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 2020-04-04 11:25:16 +02:00 (CEST)
Date last edited N/A

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