Phenotype #0000337151

Individual ID 00447961
Associated disease NDD
Diagnosis/Initial developmental delay
Diagnosis/Definite MRD54
Phenotype details see paper; ..., 4m-developmental delay; EEG no epileptic discharge (10 month and 5y); OFC 35.0 cm(+1.1 SD) at birth, 43.3 cm(−1.4 SD) at 9 month, 46 cm(−2.4 SD) at 2y; no head control, no words; profound intelletucal disability, hypotonia with ankle clonus; myoclonic movements extremities/lip, ocular convergence spasm, oculogyric crisis; no ataxia; MRI brain 12m-normal; 2y-progressive cerebellar atrophy; elder brother mild intellectual disability
Inheritance Isolated (sporadic)
Age/Examination 8y (8 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 2024-02-05 12:29:02 +01:00 (CET)
Date last edited N/A

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