Phenotype #0000345812

Individual ID	00457349
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDLBF
Phenotype details	see paper; ..., birth 35w; prenatal breech; no Infant feeding difficulties; no failure to thrive; speech delay, 4y-talking; motor delay, 15m-walk; intellectual disability, 15y-functioning at level of 9-10y; no regression of developmental milestones; poor effort tolerance; anxiety; ADHD (iInattentive type); no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; 15y8m-no macrocephaly, OFC 74th centile; -; MRI brain normal; EEG brain normal; no seizures; no epilepsy; 10m-sleep apnea requiring nasal CPAP; metopic craniosynostosis, mild trigonocephaly; no short stature; no congenital heart defects; hyperphagia, prior history of abdominal with diarrhea alternating with constipation; scoliosis (14 degrees), kyphosis (42 degrees); hypermetropia, blinks very frequently; hyperacousia; long face with facial asymmetry, palpebral fissures are straight(interpupillary distance is 53 mm), tubular nose, thin upper lip, mild eversion of lower vermillion, high-arched palate, prominent chin, facial hair, small ears
Inheritance	Isolated (sporadic)
Age/Examination	15y9m (15 years, 9 months)
Age/Diagnosis	15y9m
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-08 11:01:45 +01:00 (CET)
Date last edited	N/A