Phenotype #0000352973

Individual ID 00467819
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDHYBA
Phenotype details see paper; ..., birth-41w+3; no failure to thrive; feeding problems; delayed speech; delayedgross motor development, walks independently with difficulty and AFOs; delayed fine motor development; global developmental delay; non-clinical seizures; no autism; moderate hypotonia; self- stimulatory actions when younger; strabismus, intermittent right exotropia; no hearing impairment; dysmorphic features
Inheritance Isolated (sporadic)
Age/Examination 5y (5 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 2025-10-31 17:49:51 +01:00 (CET)
Date last edited N/A

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