Phenotype #0000351327

Individual ID	00465927
Associated disease	NDD
Diagnosis/Initial	neurodegenerative delay
Diagnosis/Definite	BRYLIB1
Phenotype details	see paper; ..., prenatal unremarkable, uneventful; premature birth; short stature, growth hormone deficiency, delayed bone age (-3 to -4 SD), failure to thrive; global developmental delay (gross motor delay, fine motor delay, speech delay) happy demeanor; relative macrocephaly, hypotonia (r>l), abnormal gait; MRI brain borderline, macrocephaly; facial asymmetry (r>l), slightly low-set ears, long eyelashes, open mouth appearance, pointed chin, bilateral branchial remnant (s/p) (more prominent on right), fingertip pads, small hands/feet; no visual impairments; mild asymmetry ower extremities (r>l), mild pes planus; resolved pulmonary artery branch stenosis, resolved premature atrial contractions; delayed teeth eruption, chronic dysfunction of eustachian tubes, adenoid hypertrophy
Inheritance	Isolated (sporadic)
Age/Examination	4y6m (4 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-06-19 10:58:58 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD