Phenotype #0000359668

Individual ID	00474875
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	DEDHIL
Phenotype details	see paper; ..., borderline non-verbal IQ; no ophthalmologic problems; no hearing loss; class III malocclusion due to midface retrusion; no cardiac problems; mild asthma as child, flares up every once in a while; no gastrointestinal problems, no feeding difficulties; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; no musculoskeletal problems; no immunological problems; normal skin; anxiety, depression; midface retrusion; normal hands, normal feet
Inheritance	Unknown
Age/Examination	44y6m (44 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-27 14:20:42 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD