Phenotype #0000230264

Individual ID	00303180
Associated disease	CDLS
Phenotype details	mild; no brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no 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, no cleft palate, no widely spaced teeth, retained primary dentition, some missing secondary dentition, no micrognathia/no retrognathia; no cutis marmorata, hirsutism; small hands, proximally set thumbs, clinodactyly 5th finger, very short 5th finger; small feet, no syndactyly toes; Short 5th metacarpals & 5th fingers and distal phalanges esp. thumb and middle finger. Ulnar deviated ring ringers; no caridac defects; Polycystic ovary syndrome; no hearing loss; no anomalies CNS; no seizures ; mild intellectual disability; autism spectrum disorder; weight 80.55kg (Z 1,5), height 154.2cm (Z -1,4), OFC 52.8cm (SD -0,9); no obesity
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	28y10m (28 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

Global Variome shared LOVD