Phenotype #0000304337

Individual ID	00412332
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	last assessment middle childhood; microcephaly; no short stature; intellectual disability; developmental delay; speech not yet achieved; early adolescence absence seizure suspected, generalized tonic clonic seizure, petit mal, infantile spasms, drop seizures, foods can act as trigger; hypotonia; small hands and feet; osteoporosis diagnosed during middle childhood; essential tremor starting during middle childhood, stereotypic movements, hand flapping; optical nerve hypoplasia diagnosed during infancy with associated vision loss; normal hearing; no dysmorphism; constipation; no autism spectrum disorder, autistic features (no formal diagnosis), self-stimulatory behavior (hand flapping); no failure to thrive; recurrent insomnia; brachydactyly of hands and feet, decreased bone mineralization during middle childhood, bone deformation of lower extremities requiring medical fracture and fixation for correction; chronic bronchitis diagnosed during infancy, tonsilectomy; MRI brain normal; Spot EEG normal as a toddler, 24hr EEG in middle childhood was abnormal;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-27 19:18:04 +02:00 (CEST)
Date last edited	N/A