Phenotype #0000346235

Individual ID 00457786
Associated disease NDD
Diagnosis/Initial intellectual disability syndrome
Diagnosis/Definite GADEVS
Phenotype details birth weight 2,010g (SD−2.5), height 154.4cm (SD-2.5), OFC 52.5cm (SD-2); 15m-wal; delay; special education; no hypotonia; no behavioral abnormality; no sleep disturbance; progressive dystonia; MRI brain subcortical bifrontal white-matter foci; mild facial asymmetry; broad forehead; simple ears; no periorbital fullness; no downslant; no full nasal tip; malar flattening; no indented upper lip; no thick lower lip; no pointed chin; difficulty with chewing and swallowing; no recurrent infections; no eye abnormalities; no renal abnormalities; hypothyroidism
Inheritance Isolated (sporadic)
Age/Examination 35y (35 years)
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 2024-11-19 11:17:49 +01:00 (CET)
Date last edited N/A

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