Phenotype #0000292356

Individual ID 00399244
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite NEDSGA
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., prenatal period maternal pre-eclampsia, birth 34wweight 3,033 g (95P), length 47 cm (61P), OFC 34 cm (86P); neonatal hypertonia, nystagmus, increased startle reflex; no congenital anomalies; normal postnatal growth; severe developmental delay; no speech; MRI brain optic nerve hypoplasia; occasional response to voice; muscle spasticity; supported walking; 14m-onset seizure-like episodes; large ears; EEG generalized slowing, no epileptiform discharges
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2022-01-17 18:24:48 +01:00 (CET)
Date last edited 2022-01-17 18:26:08 +01:00 (CET)

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