Global Variome shared LOVD

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Phenotype #0000230263 Individual ID 00303179 Associated disease CDLS Phenotype details mild; no brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no cleft palate, no widely spaced teeth, crowding, protruding front teeth, mild micrognathia/retrognathia ; no cutis marmorata, hirsutism; small hands, proximally set thumbs, no clinodactyly 5th finger, very short 5th finger; small feet, no syndactyly toes; Short 4/5th metacarpals, 5th fingers and distal phalanges of thumbs; no caridac defects; Polycystic ovary syndrome; hearing loss, Progressive bilateral. Deaf in 30s.; no anomalies CNS; no seizures ; mild intellectual disability; autism spectrum disorder; weight 64.4kg (Z 0,5), height 150.4cm (Z -2), OFC 53.4cm (SD -0,3); no obesity Diagnosis/Initial Cornelia De Lange Syndrome Inheritance Unknown Diagnosis/Definite CDLS5 Age/Examination 35y6m (35 years, 6 months) 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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