Phenotype #0000267886

Individual ID 00372573
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details birth 39w, weight 3,969 g/95th, OFC 39.5cm/>97th; OFC −0.7 SD; dilated ventricles at 36 weeks; delayed development; hypotonia; intellectual disability; no absent speech; 21m-sitting; 3y-walking; no toilet trained; swallowing difficulties; autism spectrum disorder; aggressiveness; arm extension movements; wide gait; no strabismus; abnormal movements treated with levetiracetam, EEG normal; corpus callosum agenesis; abnormal myelination; no short stature; no scoliosis; hypermobile joints; no heart defect; no abnormal genitalia; curly hair, hypertelorism, downslanting palpebral fissures, broad nasal root
Inheritance Isolated (sporadic)
Age/Examination 4y6m (4 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2021-05-10 09:29:40 +02:00 (CEST)
Date last edited N/A

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