Phenotype #0000242890

Individual ID	00324347
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	dysmature, hypotonia, birth 38+3w, birth weight 2.335kg (p2); weight p67, height p13, OFC p65; motor development impairment. does not speak. uses sign language. little facial expression. language comprehension at 26 months at age of 10 months; moderate intelletual disability; 26m-IQ of 16m; anxieties, attention/concentration deficit, tempert tantrums, impulsivity, gnash, fear of abandonment by going to sleep; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; hypotonia; no seizures; 1y-MRI brain normal; sleep disturbance; congenital ankyloglossis, frenectomy; broad nasal bridge, epicanthal folds, low-set ears; simian line (fourfinger line); normal hearing; 2.5y-OD: S+2 OS: S+3, glasses, exophoria, strabismus sursoadductorius OD; beta thalassemie minor, microcytic anemia. mild eczema;
Inheritance	Isolated (sporadic)
Age/Examination	2y4m (2 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Bregje van Bon
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-07 19:16:12 +01:00 (CET)
Date last edited	N/A