Phenotype #0000292638

Individual ID 00399533
Associated disease NDD
Diagnosis/Initial mitochondrial disorder
Diagnosis/Definite -
Phenotype details weight 30 (+1), height 117.4 (-2), OFC 48 (+0 at 27m); growth failure; developmental/intellectual delay; 23m-walk; speech delay, 26m-first words, speech in sentences but difficult to understand because of articulation errors, can be jumbled together, especially when excited or tired; hypotonia; seizures, 5y-last seizure; 1m/9m/2y-MRI brain normal, mild prominence of ventricles and sulci;improved dilation of cortical sulci; social difficulties, meltdowns, sensory processing difficulties; ventricular septal defect, now closed; mild myopia, left exotropia; early VUR, left hydronephrosis; normal hands; normal feet; hyperlaxity; feeding difficulties; facial dysmorphism, mild wide-spacing of eyes, protruding ears, teneted upper lip
Inheritance Isolated (sporadic)
Age/Examination 8y4m (8 years, 4 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 2022-01-21 14:10:33 +01:00 (CET)
Date last edited N/A

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