Global Variome shared LOVD

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Phenotype #0000246669 Individual ID 00328443 Associated disease SRTD Diagnosis/Initial short-rib polydactyly syndromes (SRPS) Diagnosis/Definite short-rib polydactyly syndromes (SRPS) Phenotype details Rectal atresia (HP_0025023), Abnormal facial shape (HP:0001999), polydactyly of the hand (HP:0001161), deep grooves on the plantar surfaces of his feet, Echogenic kidneys, narrow thorax (HP:0000774), dolichocephaly (HP:0000268), Reduced renal corticomedullary differentiation (HP:0005565), micropenis (HP:0000054), dextrocardia (HP:0001651), situs inversus (HP:0001696), short ribs (HP:0000773), speech delay (HP:0000750), mild intellectual disability (HP:0001256) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset Rectal atresia (HP_0025023), polydactyly of the hand (HP:0001161) narrow thorax (HP:0000774), dolichocephaly (HP:0000268), Reduced renal corticomedullary differentiation (HP:0005565), short ribs (HP:0000773), speech delay (HP:0000750) Owner name Jens Doets Database submission license No license selected Created by Jens Doets Date created 2021-01-27 20:07:43 +01:00 (CET) Date last edited 2021-01-28 08:46:13 +01:00 (CET)

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