Phenotype #0000242900

Individual ID	00324357
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	normal pregnancy, birth low apgar scores, emergency drive to hospital due to tracheomalacie, birth 39w, birth weight 2.9kg (p15); weight p19,6, height p17,3, OFC p64; motor development expressive language impairment and below average language comprehension. first words <12m. 3 years: 4-5 words communication with hand signs. only understands commands that often occurs; speech furst words <12 ms; no intelletual disability; attention/concentration deficit, temper tantrums towards mother. spontaneous, cheerful, helpful character; no autism spectrum disorder; no attention deficit hyperactivity disorder/ADD; hypotonia; no seizures; 5-28m physiotherapy for hypermobility and hypotonia; congenital tracheomalacie; long face, full nose tip, telecanthus, folded top of the helix edge, small mouth, thick lower lip, long philtrum.; pes planus; normal hearing; normal eyes; eczema. allergies: cow milk. intolerance: tap water. medication: erytromycine, nexium; hypermobility, delayed sensory information processing
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 years)
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