Phenotype #0000352895

Individual ID 00467743
Associated disease NDD
Diagnosis/Initial hearing loss
Diagnosis/Definite -
Phenotype details see paper; ..., mild developmental delay (IQ86, verbal comprehension index 75); 14m-walk; 1y-first words; speech severe articulation problems up to 3y, speaks in short sentences; autism spectrum disorder; attention-deficit/hyperactivity disorder; 5y-onset focal seizures, EEG continuous spike, wave during slow wave sleep; MRI brain hypoplastic corpus callosum and incomplete inversion of the left hippocampus. Hemisfere asymetry (left smaller).; triangular face, anteverted nares, pointy chin, cubid bow lip, frontal bossing; short hands and tapering fingers; no postnatal growth retardation; 1y-unilateral exotropia (2y-surgery)
Inheritance Isolated (sporadic)
Age/Examination 11y (11 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 2025-10-29 10:02:21 +01:00 (CET)
Date last edited N/A

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