Phenotype #0000304348

Individual ID 00412343
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details last assessment early childhood; height -2.20 SD , OFC -2.17 SD; microcephaly; short stature; walking not yet achieved; intellectual disability; developmental delay; speech regression at early childhood, currently no soeech; no seizures/epilepsy; hypotonia; normal joints; stereotypic movements, hand flapping; unilateral strabismus, amblyopia (corrected); normal hearing; no dysmorphism; constipation; no autism spectrum disorder, frequent outbursts when frustrated, repetitive hand flapping; insomnia; no skeletal abnormalities; MRI brain T2-FLAIR hyperintensities in the left frontal lobe, centrum semiovale and bilateral periventricular parietal and occipital regions; Routine EEG as a toddler was normal; Normal sinus rhythm assessed during early childhood
Inheritance Isolated (sporadic)
Age/Examination -
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 2022-06-27 19:18:04 +02:00 (CEST)
Date last edited N/A

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