Phenotype #0000352977

Individual ID 00467823
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDHYBA
Phenotype details see paper; ..., birth-39w; failure to thrive; feeding problems; no speech; delayed gross motor development, sits supported, no craw, not walking; delayed fine motor development; severe intellectual disability; 6m-onset seizures, well controlled with Keppra; no autism; truncal hypotonia, nuchal hypotonia; normal behavior; esotropia; no hearing impairment; dysmorphic features; atrial septal defect, bilateral talipes equinovarus, bilateral renal pyelectasis, bilateral hand contractures, congenital radial head dislocation, hypoplastic/absent coccyx
Inheritance Isolated (sporadic)
Age/Examination 7y (7 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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