Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000284201 Individual ID 00390713 Associated disease NDD Diagnosis/Initial Noonan syndrome Diagnosis/Definite - Phenotype details intrauterine growth retardation; short stature (<-3 SD); severe developmental delay; microcephaly; strabismus, blepharoptosis; Bilateral ptosis, hypertelorism, down slanting palpebral fissures, epicanthus, long philtrum, micrognathia, high-arched palate, cleft palate, low-set ears; Short, webbing, low posterior hair line; widely-spaced nipples, pectus excavatum; no cardiac defects; cryptorchidism; Socliosis, bilateral 5th finger clinodactyly, overlapping 2nd and 3rd toes; normal skin; Sensorineural hearing loss Inheritance Familial, autosomal dominant Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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.