Phenotype #0000230547

Individual ID 00303467
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDAHM
Phenotype details severe intellectual disability; delayed speech and language development; autistic behaviour; Height 3y6m 96 cm (25th centile); OFC 45 cm (<0.4th); progressive spasticity with delayed gross and fine motor development; delayed gross motor development, walk-14m, needs splints; MRI detected a thin corpus callosum and reduced periventricular white matter bulk with mildly enlarged ventricles (Fig. 1e); hyperpigmentation skin, small cafĂ© au lait macules
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 2020-06-12 19:05:40 +02:00 (CEST)
Date last edited N/A

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