Phenotype #0000230279

Individual ID 00303195
Associated disease CDLS
Phenotype details severe; no brachycephaly; low anterior hairline; mildly arched eyebrows, synophrys, long eyelashes, no hypertelorism, telecanthus, ptosis, myopia, lacrimal duct obstruction, 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, high arched palate, cleft palate, submucous, no widely spaced teeth, no gap between upper incisors, micrognathia/retrognathia; no short neck; facial asymmetry; cutis marmorata, hirsutism, no nevus flameus; small hands, no proximally set thumbs, no clinodactyly 5th finger, no single transverse palmar crease; small feet, syndactyly toes 2,3 bilateral; no restriction elbow movements; leg length discrepancy, hips asymmetric; caridac defect, VSD s/p repair; no genitourinary defects; gastroesophageal reflux; feeding problems in infancy ; no hearing loss; seizures, grand mal; severe intellectual disability; aggression, self-injurious; has some words; delayed but not too behind; birth (40)w, birth weight 2500g (SD -2), length 48cm (SD -1), OFC 31.75cm (SD -1,6); weight 52.4kg (Z -0,7), height 143.4cm (Z -3), OFC 12y 45.8cm (SD -5);
Diagnosis/Initial Cornelia De Lange Syndrome
Inheritance Unknown
Diagnosis/Definite CDLS5
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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