Phenotype #0000284199

Individual ID 00390711
Associated disease NDD
Diagnosis/Initial Noonan-related disorder
Diagnosis/Definite -
Phenotype details intrauterine growth retardation; short stature (-3.68 SD); mild developmental delay; microcephaly; strabismus, myopia; Horizontal palpebral fissure, hypertelorism, epicanthal folds, high arched palate, low-set ears; low posterior hair line; no abnormalities chest; Ventricular septal defect; Bilateral simian crease; sparse hair, ichthyosis; Juvenile rheumatoid arthritis
Inheritance Familial, autosomal dominant
Age/Examination 5y8m (5 years, 8 months)
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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