Phenotype #0000343458

Individual ID 00454851
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite RENU
Phenotype details see paper; ..., no intra-uterine growth retardation; short stature (resolved, 6y-starting growth hormone); microcephaly, congenital; severe global developmental delay; 7y-first steps, ambulatory in home for short distances, uses wheelchair out of home; no speech; intellectual disability; behavioral issues; self-biting of hand, aggressive behavior toward others when frustrated, self-hitting, pica, anxiety; hypotonia (mixed tone, trunk hypotonia, limb hypertonia); seizures; MRI brain abnormal, Arachnoid cyst, brain atrophy, pineal cyst, hypoplasia of the corpus callosum, periventricular heterotopia, bilateral ventriculomegaly
Inheritance Isolated (sporadic)
Age/Examination 12y (12 years)
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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