Global Variome shared LOVD

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Phenotype #0000227562 Individual ID 00300261 Associated disease SRTD Diagnosis/Initial short rib polydactyly syndrome Diagnosis/Definite SRTD18 Phenotype details 18w-delivery; poor mineralization of the calvarium; mild hydrocephalus; no reported abnormalities; no reported abnormalities; narrow and barrel shaped chest, short, bent and decreased number of ribs (11), vertebrae flattened and abnormally wedged with round anterior ends; malrotation of the intestines; polycystic kidneys; micromelia, decreased mineralization with curved radii and ulnae; abnormal ilia with decreased height, narrow sciatic notch, hypoplastic ischium; micromelia, angulated femur, hypoplastic tibae and fibulae; preaxial polydactyly, brachydactyly and aphalangia in hands Inheritance Familial, autosomal recessive Age/Examination <0d 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 2020-04-25 19:30:00 +02:00 (CEST) Date last edited N/A

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