Global Variome shared LOVD

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Phenotype #0000230254 Individual ID 00303170 Associated disease CDLS Phenotype details severe; brachycephaly; low anterior hairline; very large anterior and posterior fontanelles; arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, hooding of lids; no depressed nasal bridge, no anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, cleft palate, submucous cleft, widely spaced teeth, gap between upper incisors, oligodontia, fused incisor, no micrognathia/no retrognathia; short neck; no cutis marmorata, no hirsutism, nevus flameus; , proximally set thumbs, clinodactyly 5th finger, no short 5th finger, single transverse palmar crease; no syndactyly toes; no restriction elbow movements; genitourinary defect, micropenis cryptorchidism; gastroesophageal reflux; feeding problems in infancy ; hiatal hernia; hearing loss; no seizures ; intellectual disability; very pleasant; speech 3y-3 words; sit unstable-3y; weight 8,7kg (Z -2,2), height 72cm (Z -2,2), OFC 45cm (SD -1,5); no obesity Diagnosis/Initial Cornelia De Lange Syndrome Inheritance Unknown Diagnosis/Definite CDLS5 Age/Examination 14m 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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