Phenotype #0000337153

Individual ID 00447963
Associated disease NDD
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRT63
Phenotype details see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-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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