Phenotype #0000230439

Individual ID	00303362
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., during pregnancy twin pregnancy, IVF, twin brother healthy; maternal blood pressures spiked very high during delivery. Individual was first of twins, Apgar 9/10; birth 37-38w; intellectual disability, slight disability; developmental delay; motor delay, in childhood; speech delay, in childhood; no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; anxiety, bipolar, schizoaffective, autism spectrum disorder symptoms: deficits in pragmatic language, social skills, emotional and social delays, emotional and behavioral dysregulation; sleep disturbances; no regression; deficits in spacial skills, fluid reasoning, visual memory, visual-motor skills, executive functioning; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; 7y-glasses, vision eye therapy; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological testing performed, no clinical suspicion, not prone to infections; normal skin, normal hair, normal nails; no neoplasms
Inheritance	Isolated (sporadic)
Age/Examination	33y (33 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-10 17:04:23 +02:00 (CEST)
Date last edited	2021-04-11 14:40:25 +02:00 (CEST)