Phenotype #0000318731

Individual ID 00427717
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., mild intellectual disability; infancy hypotonia; mild hearing loss, tympanostomy tubes; normal vision; delayed speech, first words at 36 months; autism spectrum disorder, 'temper tantrums'; no seizures; MRI brain foreshortening corpus callosum, with small curvilinear pericallosal lipoma; weight 95th centile; height 70th centile; microcephaly; microcephaly; failure to thrive, feeding difficulties; sleep initiation disorder, uses melatonin
Inheritance Isolated (sporadic)
Age/Examination 8y (8 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 2022-12-12 19:44:10 +01:00 (CET)
Date last edited N/A

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