Phenotype #0000359678

Individual ID 00474885
Associated disease NDD
Diagnosis/Initial neurodevelopmental syndrome
Diagnosis/Definite DEDHIL
Phenotype details see paper; ..., no prenatal anomalies; hypotonia (shortly after birth); normal development; no ophthalmologic problems; bilateral mixed hearing loss requiring hearing aids; no cardiac problems; birth respiratory distress; feeding dysfunction infancy, G-tube, GERD; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; muscle fatigue; no immunological problems; normal skin; no facial dysmorphism; normal hands, normal feet
Inheritance Isolated (sporadic)
Age/Examination 10y2m (10 years, 2 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 2026-03-27 14:20:42 +01:00 (CET)
Date last edited N/A

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