Phenotype #0000230273

Individual ID	00303189
Associated disease	CDLS
Phenotype details	moderate; no brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, myopia, no lacrimal duct obstruction, no hooding of lids; depressed nasal bridge, no anteverted nostrils, no broad/no bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, gap between upper incisors, micrognathia/retrognathia; no cutis marmorata, no hirsutism, nevus flameus; small hands, proximally set thumbs, no clinodactyly 5th finger, very short 5th finger; small feet, no syndactyly toes; no caridac defects; genitourinary defect, Right-sided hydronephrosis; no gastroesophageal reflux; feeding problems in infancy ; hearing loss; no anomalies CNS; no seizures ; mild intellectual disability; cheerful; good understanding of language, limited expressive language; Sat-12m, walk-26m, in mainstream school; birth 40w, birth weight 2722g (SD -1), length 45.8cm (SD -2), OFC 32cm (SD -1,6); weight 21.4kg (Z -0,6), height 113cm (Z -1,9), OFC 49.6cm (SD -0,9); no obesity
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	7y4m (7 years, 4 months)
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