Global Variome shared LOVD

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Phenotype #0000230265 Individual ID 00303181 Associated disease CDLS Phenotype details mild; no brachycephaly; no low anterior hairline; no arched eyebrows, no hypertelorism, telecanthus, hooding of lids; no anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; no thin upper lip; , no nevus flameus; restriction elbow movements; bilateral upper limb malformations; right upper extremity with hypoplastic radius.ulna and single ray, left with oligodactyly and split hand, vertebral anomaly?; no caridac defects; genitourinary defect, solitary kidney; no gastroesophageal reflux; feeding problems infancy, NG feed for 4d; hearing loss, failed NBS; spoke "early", 3y-5 word sentences; normal motor development, sat-6m, walk-1y; respiratory distress x4d @ birth; birth 40w, birth weight 2840g (SD -0,5); weight 13.78kg (Z -0,3), height 97cm (Z 0,4), OFC 49cm (SD -0,4); Diagnosis/Initial Cornelia De Lange Syndrome Inheritance Unknown Diagnosis/Definite CDLS5 Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-08 09:10:42 +02:00 (CEST) Date last edited N/A

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