Phenotype #0000230255

Individual ID	00303171
Associated disease	CDLS
Phenotype details	moderate; brachycephaly, microcephaly; low anterior hairline; prominent metopic suture at birth; arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, myopia (-6), no hooding of lids; no depressed nasal bridge, no anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, widely spaced teeth, no gap between upper incisors, caries, possible absence of mandibular primary lateral incisors, fused lower primary incisors and canines, mild micrognathia/retrognathia ; no short neck; no cutis marmorata, hirsutism forehead, nevus flameus, pigmentary mosaicism; small feet, no syndactyly toes; gastroesophageal reflux; feeding problems in infancy (NGT x 1mo); difficulty eating solid foods, normal bowel movements @ 5.5y; severe bilateral SNHL; MRI brain normal; no seizures ; moderate-severe intellectual disability; friendly, disinhibited, hyperactive, no sleeping problems, voluntarily "pants"; speech 2y-2 words, 5.5y-50 words, understands 1 stage commands, learning colors and animals; sat-10m, walk-24m, 5.5y-poor fine motor, not toilet trained; oligohydramnios, hyperbilirubinemia; birth 40w, birth weight 2700g (SD -1,4); weight 13.9kg (Z -2,7), height 99.7cm (Z -2,5), OFC 44.8cm (SD -5); no obesity
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	5y6m (5 years, 6 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

ELOVL4 (ELOVL fatty acid elongase 4)

Phenotype #0000230255