Phenotype #0000345806

Individual ID	00457343
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDLBF
Phenotype details	see paper; ..., birth 36w+1; prenatal IUGR, SGA, premature, short femur (prenatal ultrasound); Infant feeding difficulties; failure to thrive; speech problems; motor delay; intellectual disability; no regression of developmental milestones; global developmental delay; no anxiety; no ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; +(39 cm(<<1st centile)-2Y3M; 41 cm(<<1st centile)-3Y9M;); MRI brain normal; no seizures; no epilepsy; no sleep disturbances; short stature; no congenital heart defects; no gastrointestinal disturbance; mild strephenopodia; congenital abnormal eye development (nystagmus, leukoma,esotropia); no hearing impairment; no hypotonia; round face, asymmetrical palpebral fissure, cup ears, low front hairline, deviated mouth, deep and prominent concha
Inheritance	Isolated (sporadic)
Age/Examination	3y9m (3 years, 9 months)
Age/Diagnosis	2y3m
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

Global Variome shared LOVD