Phenotype #0000346236

Individual ID 00457787
Associated disease NDD
Diagnosis/Initial intellectual disability syndrome
Diagnosis/Definite GADEVS
Phenotype details birth weight 3.83kg, height 125.5cm (SD-1.5), OFC 50 cmcm (SD-1.3); 6y6m-wal; non-verbal; moderate-severe intellectual disability; moderate hypotonia; autism; no sleep disturbance; no abnormal movement; MRI brainfocal areas of encephalomalacia; facial asymmetry; broad forehead; suborbital fullness; downslant; full nasal tip; malar flattening; no indented upper lip; thick lower lip; no pointed chin; micrognathia, ptosis, sparse eyebrows; distal arthrogryposis; consistently underweight; no recurrent infections; mild astigmatism; no cardiac abnormalities; craniosynostosis, growth hormone deficiency, lacrimal duct hypoplasia, tooth abnormalities
Inheritance Isolated (sporadic)
Age/Examination 9y3m (9 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 2024-11-19 11:17:49 +01:00 (CET)
Date last edited N/A

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