Phenotype #0000230372

Individual ID 00303296
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details height 101 cm (SD 0.66), weight 17.2kg (SD 1.04), OFC 49.2 cm (SD −0.38); mild-moderate mild developmental delay/intellectual disability (SON-IQ 1x67, 1x50); 14m-walk; 12m-first words, 3y3m-speech 30 words; regression stagnation with seizures; 27m-30m-seizures 4x; MRI subcortical periventricular hypomyelination; muscular hypotonia; autistic features; no urogenital anomalies; no gastro-intestinal anomalies; no skeletal anomalies
Inheritance Isolated (sporadic)
Age/Examination 3y3m (3 years, 3 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 2020-06-09 19:07:12 +02:00 (CEST)
Date last edited 2020-08-08 22:55:54 +02:00 (CEST)

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