Phenotype #0000284213

Individual ID	00390725
Associated disease	NDD
Diagnosis/Initial	Williams syndrome
Diagnosis/Definite	-
Phenotype details	no intrauterine growth retardation (38w, 2.863kg); short stature (<5th percentile); developmental delay; ptosis, myopia, astigmatism, significant photophobia; coarse facies, frontal bossing, downslanting palpebral fissures, flat nasal bridge, broad nose, thick anteverted alae nasi, macrosomia, thin upper vermillion, thick lower vermillion, long and prominent philtrum, gingival hyperplasia with broad central maxillary incisors with crowded an irregular mandibular teeth, low set ear; fifth digit clinodactyly and persistent fetal finger/toe pads, nail hypoplasia of toes 3, 4, 5. shortened long bones; hypo-pigmentary anomalies, hyper-pigmentary anomalies; feeding problmes required a gastrostomy, ADHD
Inheritance	Familial, autosomal dominant
Age/Examination	8y11m (8 years, 11 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-11 17:06:31 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD