Phenotype #0000337152

Individual ID 00447962
Associated disease NDD
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRT63
Phenotype details see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies
Inheritance Familial, autosomal recessive
Age/Examination -
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 12:59:22 +01:00 (CET)
Date last edited 2025-12-02 13:47:03 +01:00 (CET)

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