Phenotype #0000230267

Individual ID	00303183
Associated disease	CDLS
Phenotype details	severe; brachycephaly; no low anterior hairline; normal skull; no arched eyebrows, no synophrys, no long eyelashes, no hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids, deep set eyes, narrow palpebral fissures; 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 high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, micrognathia/retrognathia; short neck; no cutis marmorata, no hirsutism, no nevus flameus; small hands, no proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, syndactyly toes 2,3; no restriction elbow movements; normal patellae; short 5th metacarpals, tapering fingers; no caridac defects; no genitourinary defects; no feeding problems in infancy ; no hearing loss; MRI brain normal; seizures, from 4 years generalized and complex partial seizures; intellectual disability; friendly; delayed speech; walk-22m; birth 37.5w, birth weight 2160g (SD ; weight 31.3kg (Z 1,8), height 122cm (Z 0,4), OFC 48.5cm (SD -2,1); 6y-obesity, progressive, described as insatiable
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	6y8m (6 years, 8 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

EBF4 (early B-cell factor 4)

Phenotype #0000230267