Phenotype #0000230281

Individual ID	00303197
Associated disease	CDLS
Phenotype details	severe; brachycephaly; low anterior hairline; arched eyebrows, synophrys, long eyelashes, hypertelorism, no telecanthus, no ptosis, lacrimal duct obstruction; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, micrognathia/retrognathia; short neck; , hirsutism, no nevus flameus; small hands, proximally set thumbs, short 5th finger, single transverse palmar crease; small feet, syndactyly toes 2,3 left, 1,2 right; patellae not palpated; caridac defect, pulmonary stenosis; anterior anus; unilateral hearing loss; no anomalies CNS; seizures (meningitis); severe intellectual disability; delayed speech; birth 40w, birth weight 2280g (SD -2), length 43cm (SD -3), OFC 30cm (SD -3); no 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
Created by	Johan den Dunnen
Date created	2020-06-08 09:10:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD