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 InternationalCreative Commons License
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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