Phenotype #0000236641

Individual ID 00311394
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details birth weight normal; normal height, OFC -1.33; developmental delay/intellectual disability, DQ 53; gross motor delay, fine motor delay, n/a; speech delay; autism, no attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; no musculoskeletal anomalies; normal skin; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; myoclonus epilepsy under control with valproate, levetiracetam
Inheritance Isolated (sporadic)
Age/Examination 2y8m (2 years, 8 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 2020-09-24 16:15:46 +02:00 (CEST)
Date last edited N/A

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