Phenotype #0000343478

Individual ID 00454871
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite RENU
Phenotype details see paper; ..., intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; not yet walking; speech few words (3y-first few single words); behavioral issues; Self-harming - repeatedly hits his mouth with his hand or anything he can find to pick up. This has damaged the dentition of his upper 2 incisors.; hypotonia (central); seizures; MRI brain abnormal, generalised decreased white matter in cerebral hemispheres, most prominent in occipital regions, thinning of corpus callosum, moderate ventriculomegaly, delayed myelination. MRS-NAD.
Inheritance Isolated (sporadic)
Age/Examination 3y6m (3 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 2024-09-30 10:26:47 +02:00 (CEST)
Date last edited N/A

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