Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000230269 Individual ID 00303185 Associated disease CDLS Phenotype details moderate; died 12y; brachycephaly; no low anterior hairline, widow's peak; large anterior and posterior fontanelle; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, ptosis, myopia, lacrimal duct obstruction, no hooding of lids; no depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, no cleft palate, widely spaced teeth, gap between upper incisors, micrognathia/retrognathia; short neck; cutis marmorata, hirsutism, nevus flameus; small hands, proximally set thumbs, no clinodactyly 5th finger, very short 5th finger, no single transverse palmar crease; small feet; no restriction elbow movements; no caridac defects; no genitourinary defects; gastroesophageal reflux; feeding problems in infancy ; intellectual disability; no obesity Diagnosis/Initial Cornelia De Lange Syndrome Inheritance Unknown Diagnosis/Definite CDLS5 Age/Examination - 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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