Phenotype #0000230258

Individual ID	00303174
Associated disease	CDLS
Phenotype details	mild; brachycephaly; no low anterior hairline; fontanelle closed at 3y; arched eyebrows, no synophrys, long eyelashes, no hypertelorism, no telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids, mild upslant; no depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, no widely spaced teeth, no gap between upper incisors, slightly broad teeth, no micrognathia/no retrognathia; no short neck; short nasal bridge, sparse hair; no cutis marmorata, no hirsutism, no nevus flameus, freckled nasal bridge and left leg; small hands, proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; normal patellae; caridac defect, ASD; no genitourinary defects; no gastroesophageal reflux; feeding problems in infancy ; no hearing loss; glue ear; no anomalies CNS; no seizures ; mild intellectual disability; autistic behavior; delayed expressive language; delayed motor development, walk->2y; birth 30w, birth weight 900g (SD -3), length ; weight 14.2kg (Z , height 97.6cm (Z -2), OFC 46.2cm; no obesity
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	4y10m (4 years, 10 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