Phenotype #0000284200

Individual ID 00390712
Associated disease NDD
Diagnosis/Initial Noonan-related disorder
Diagnosis/Definite -
Phenotype details intrauterine growth retardation; short stature (-2 SD); moderate developmental delay; microbrachycephaly; strabismus, myopia, Duane anomaly; Horizontal palpebral fissures, broad nose, long philtrum, low set ears, high arched palate; webbed neck, low posterior hair line; widely-spaced nipples; cryptorchidism; Bilateral 5th finger clinodactyly, single palmar crease, multiple epiphyseal dysplasia; hyperkeratotic skin; Sensorineural hearing loss
Inheritance Familial, autosomal dominant
Age/Examination 12y (12 years)
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.