Phenotype #0000279218

Individual ID	00385422
Associated disease	NS
Phenotype details	height 145 cm (SD-2.41), weight 42 kg (SD-1.02), OFC 57 cm (SD+1.32); developmental delay; mild intellectual disability; language delay; learning disorder; hypotonia; congenital heart defect, mild aortic insufficiency, mitral valve prolapse; hypertrophic cardiomyopathy, focal interventricular septum hypertrophy; pectus excavatum; hyperlaxity; cubitus valgus; bitemporal narrowing; hypertelorism; low-set and/or posteriorly rotated ears; prominent nasal bridge; low posterior hairline; short/webbed neck; helix folding anomaly, dysmorphic ear lobe; no café-au-lait spots; no freckling; nevi; no lymphatic involvement; bleeding/easy bruising; lymphopenia; MRI brain mild left cerebral hemisphere enlargement
Diagnosis/Initial	Noonan syndrome-like
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	NS14
Age/Examination	14y02m (14 years, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-11 08:59:10 +02:00 (CEST)
Date last edited	2024-01-25 09:34:29 +01:00 (CET)

Global Variome shared LOVD