Phenotype #0000245491

Individual ID	00327005
Associated disease	-
Phenotype details	Dominantly inherited learning disabilities, facial dysmorphism, congenital cataracts, and congenital hearing loss. Clinical assessment by a medical geneticist indicated this family shared some systemic dysmorphisms (short stature, small head circumference, and low weight, hypertelorism) and behavioral/learning disabilities, similar to RIDDLE syndrome patients. Breast cancer diagnosed at age 31.
Diagnosis/Initial	Unknown syndromic hearing/vision loss
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	lancedoucette
Owner name	Lance P Doucette
Database submission license	No license selected
Created by	Lance P Doucette
Date created	2021-01-19 17:26:52 +01:00 (CET)
Date last edited	2021-01-21 13:52:38 +01:00 (CET)

Global Variome shared LOVD