Global Variome shared LOVD

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Phenotype #0000230252 Individual ID 00303168 Associated disease CDLS Phenotype details brachycephaly; no low anterior hairline; open fontanelle (6 wk); arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, ptosis; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum; no thin upper lip, downturned corners mouth, micrognathia/retrognathia; short neck; small, lowset ears; , hirsutism, nevus flameus; small hands, clinodactyly 5th finger, short 5th finger; small feet; no caridac defects, moderate PDA; no genitourinary defects; feeding problems infancy, difficulty nursing; anterior anus; hearing loss, failed NBS; irritable (infant); birth 34w, birth weight 1988g (SD 0), length 42cm (SD -1,6); weight 2.74kg (Z -1,2), height 33.5cm (SD -0,7); no obesity Diagnosis/Initial Cornelia De Lange Syndrome Inheritance Unknown Diagnosis/Definite CDLS5 Age/Examination 42d 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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