Global Variome shared LOVD

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

Phenotype #0000154687 Individual ID 00204189 Associated disease skeletal dysplasia Diagnosis/Initial short stature Diagnosis/Definite LIBF Phenotype details see paper; ..., spondyloepimetaphyseal dysplasia; poor suck, inadequate weight gain, kyphosis; 2y11m-no intellectual disability, normal motor development, normal speech, OFC 43 cm (-4 SD), length 74 cm (-4 SD), weight 7.5 Kg (-3.3 SD), mild facial dysmorphism, small/pointed chin, retrognathia Inheritance Familial, autosomal recessive Age/Examination 02y11m (2 years, 11 months) Age/Diagnosis - Age/Onset 00y09m Phenotype/Onset short stature Protein - Owner name Katta M Girisha Database submission license No license selected Created by Johan den Dunnen Date created 2018-11-16 16:44:18 +01:00 (CET) Date last edited 2025-11-20 19:37:33 +01:00 (CET)

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