Phenotype #0000230438

Individual ID	00303361
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., no abnormalities during pregnancy; perinatal distress with low Apgar scores; birth 37w+3; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; EEG normal; no hypotonia; no spasticity; ataxia; no behavioral disturbances; no sleep disturbances; MRI brain normal; no regression; prominent resting low amplitude fast frequency tremor and almost titubation; subtle facial dysmorphisms; enamel dysplasia; no drooling, dysphagia; parental concerns, did not cooperate with testing; left strabismus; ventricle and atrial septum defect; no skeletal abnormalities, no limb abnormalities; hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (151 U/L)
Inheritance	Isolated (sporadic)
Age/Examination	12y (12 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 14:58:28 +02:00 (CEST)