Phenotype #0000330493

Individual ID	00440581
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 41w+5, weight 3595g; MRI brain cortical dysplasia, periventricular heterotopia; atrial septal defect, persistent left supervior vena cava; hypotonia; hip subluxation; hypospadias with chordee; sensorineural and conductive; stenosis external auditory canal; severe global developmental delay; no speech; length short (2.94%); no microcephaly (97%); 9m-sit and rolled over, 3y-crawl, last assessment able to stand only with support; no seizures; unilateral choanal stenosis; aspiration pneumonias; oral motor dysfunction, GERD, no G-tube; no hematologic problems; neonatal hypoglycemia (requiring glucagon infusion); short 5th digits on hands, overlapping 2nd and 3rd toes, hypoplastic 5th toenails; hypertelorism, wide anterior fontanel, wide nasal bridge, s-shaped palpebral fissures, midface retraction; yes:anisometropic high myopia and amblyopia, tortuous retinal vessels in the left eye, blepharophimosis; café au lait spot on L arm
Inheritance	Isolated (sporadic)
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-04 14:53:49 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD