Phenotype #0000284202

Individual ID 00390714
Associated disease NDD
Diagnosis/Initial Noonan-related disorder
Diagnosis/Definite -
Phenotype details no intrauterine growth retardation; short stature (-3 SD); developmental delay; prominent metopic ridge; strabismus, myopia, congenital fibrosis of the extraocular muscles; Broad forehead, Upslanting palpebral fissures, short-broad nose with anteverted nostril, small mouth, low-set ears, high arched palate; widely-spaced nipples; no cryptorchidism; Bilateral 5th finger clinodactyly, syndactyly of 2nd and 3rd toes; normal skin
Inheritance Familial, autosomal dominant
Age/Examination 20m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-11-11 17:06:31 +01:00 (CET)
Date last edited N/A

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