Phenotype #0000230271

Individual ID	00303187
Associated disease	CDLS
Phenotype details	mild-moderate; brachycephaly; low anterior hairline; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, widely spaced teeth, no gap between upper incisors, mild micrognathia/retrognathia ; no short neck; low posterior hairline, low and posteriorly rotated set ears ; no cutis marmorata, no hirsutism, nevus flameus, pigmentary mosaicism; small hands, proximally set thumbs, clinodactyly 5th finger, no single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; Shortened humeri, with widened metaphyses of distal femora, cleft vertebrae; no caridac defects; no genitourinary defects; gastroesophageal reflux; no feeding problems in infancy ; hearing loss, stenosis of auditory canal, otitis media with myringotomy; swallowing problems; MRI brain Mild cortical atrophy, small corpus callosum, enlarged cisterna magna; seizures, abnormal EEG; hypertonia; intellectual disability, 3y-IQ 50; friendly; no speech; retarded motor development; birth 37w, birth weight 2240g (SD -1,3), length 47cm (SD -0,5), OFC 31cm (SD -2); weight 14kg (Z -0,8), height 89cm (Z -2,6), OFC 48cm (SD -0,8); no obesity
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	3y10m (3 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

SNORD113-8 (small nucleolar RNA, C/D box 113-8)

Phenotype #0000230271