Global Variome shared LOVD

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Phenotype #0000227563 Individual ID 00300262 Associated disease SRTD Diagnosis/Initial short rib polydactyly syndrome Diagnosis/Definite SRTD7 Phenotype details 22w-delivery; scalp edema, low set ears; hypertelorism; thin upper lip and micrognathia; narrow and barrel shaped chest, short and bent ribs, handlebar clavicles; micromelia with bowing of the radii and ulnae; abnormal ilia with abnormal absent sciatic notch and unformed acetabular roof; micromelia; postaxial polydactyly in the hands and feet, and aphalangia in the 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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