Phenotype #0000359695

Individual ID	00474902
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	DEDHIL
Phenotype details	see paper; ..., no prenatal anomalies; 8y-normal tone; Achilles tendon contracture (tight heel cords); abnormality of coordination; possible ataxia; migraines with photophobia; MRI brain big cerebellum (46mm), crowded posterior fossa, tonsils low lying at foramen magnum, thick brainstem, scattered bilateral fl/T2 hyperintensities in subcortical white matter, thin corpus callosum; moderate intellectual disability; global developmental delay; 29m-wal; speech delay, 4y-first words, 6y-sentence, 9y-not fully understandable; compulsive behaviours, paricularly trichotillomania; no autism; hypermetropia; no hearing loss; no cardiac problems; no respiratory problems; intermittent diarrhea; small penis, small testicles (delayed puberty); normal renal ultrasound; no hematologic problems; delayed puberty; mild valgus deformity of knees; decreased coverage R-femoral head on pelvic xray; short stature (3rd); 8y-bacterial meningitis, no immunological problems history of recurrent infections; sensitive skin to temperature change; deep set eyes, mildly narrow pfs, flared eyebrows, long philtrum, prominent lips, large appearing frontal incisors; 2-3 toe syndactyly; supernumerary nipple
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 years)
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