Phenotype #0000092543

Individual ID	00117296
Associated disease	KDVS
Phenotype details	microdeletion syndrome, chromosome 17q21.31; intrauterine growth retardation; birth weight 2,500 g (5th centile); feeding difficulties, stridor, and failure to thrive in infancy; hypotonia; global developmental delay; independent walking and first words at two years of age; impaired fine motor skills; no seizures or stereotypical movements; short stature; fair hair; upslanting palpebral fissures; epicanthic folds; telecanthus; broad nasal base; smooth philtrum; thin vermillion border; small teeth; short webbed neck; blind ending sacral dimple; pes planus; prominence of the lateral ventricles secondary to lack of white matter volume, and some heterotopic nodules in the right frontal horn at brain MRI.
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	2y11m (2 years, 11 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Giuseppe Marangi
Database submission license	No license selected
Created by	Giuseppe Marangi
Date created	2013-01-14 16:51:12 +01:00 (CET)
Date last edited	2013-01-20 15:48:19 +01:00 (CET)

Global Variome shared LOVD