Global Variome shared LOVD

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

Phenotype #0000230253 Individual ID 00303169 Associated disease CDLS Phenotype details moderate; brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, no hooding of lids; no depressed nasal bridge, no anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, no downturned corners mouth, no gap between upper incisors, no micrognathia/no retrognathia; no cutis marmorata, no hirsutism; , proximally set thumbs, no clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; no restriction elbow movements; no hearing loss; no seizures ; intellectual disability, 4y-special education; normal speech; normal motor development; obese (Z 3), height 165cm (Z 0,25), OFC 54cm (SD 0,2); 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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