Phenotype #0000284205

Individual ID	00390717
Associated disease	NDD
Diagnosis/Initial	developmental delay
Diagnosis/Definite	-
Phenotype details	no intrauterine growth retardation (weight 50-75th percentile, height <3rd percentile); short stature( < 3rd percentile); developmental delay; microcephaly; blue sclera; upslanting palpebral fissures, large, low‐set ears, a broad nasal bridge with anteverted nares, downturned corners of the mouth; short neck; widely spaced nipples; Atrial septal defect; fifth finger clinodactyly, small hands and feet
Inheritance	Familial, autosomal dominant
Age/Examination	3m
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