Phenotype #0000074304

Individual ID	00096028
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	WSKA
Phenotype details	see paper; ..., birth weight 3.7 kg (96%ile)/35.5 cm (96%ile); 8m height 70 cm (75%ile), OFC 47 cm (97%ile); no developmental delay, no autism spectrum disorder; no hypotonia; metopic ridge; corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; arched eyebrows; no epicanthal folds; short upturned nose with bulbous tip; marked cupid bow/wide philtrum
Inheritance	Familial, autosomal dominant
Age/Examination	02y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Karin Weiss
Database submission license	No license selected
Created by	Karin Weiss
Date created	2017-01-27 22:12:58 +01:00 (CET)
Date last edited	2024-02-07 19:55:09 +01:00 (CET)