Global Variome shared LOVD

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

Phenotype #0000325657 Individual ID 00435468 Associated disease skeletal dysplasia Diagnosis/Initial Rhizomelia and bilateral clinodactyly Diagnosis/Definite RLSDF Phenotype details length 87 cm (0.39th, Z -2.66), OFC 47.5 cm (8.09th, Z 1.40); Rhizomelic (proximal) upper limb shortening, lower limbs proportionate; no hypotonia; speech delay; no kyphosis/hyperlordosis; short fifth digit; short broad toes; no sloping shoulders; no platyspondyly; no metaphyseal changes; short humeri; sensorineural hearing loss; no cardiovascular anomalies; widely spaced nipples Inheritance Familial, autosomal recessive Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-07-31 14:44:28 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.