Phenotype #0000230283

Individual ID	00303199
Associated disease	CDLS
Phenotype details	severe; brachycephaly; low anterior hairline; arched eyebrows, synophrys, hypertelorism, no telecanthus, severe myopia, lacrimal duct obstruction, hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, smooth philtrum, no broad/no bulbous nasal tip; no thin upper lip, downturned corners mouth, no cleft palate, no gap between upper incisors, retained primary dentition, micrognathia/retrognathia; short neck; , hirsutism, nevus flameus; small hands, proximally set thumbs, clinodactyly 5th finger; small feet, syndactyly toes 2,3; no restriction elbow movements; normal patellae; caridac defect, ASD closed to atrial septal aneurysm; no genitourinary defects; severe gastroesophageal reflux with fundoplication and GT; feeding problems in infancy ; bilateral sensorineural hearing loss; seizures, rare absence and tonic-clonic; hypertonic, very strong; severe intellectual disability; happy, good eye contact; 9-no words; delayed motor development; splenomegaly (also in unaffected family members); birth 38w; weight 14kg (Z -1,4), height 89,5cm (Z -3,1), OFC 45cm (SD -3,1); no obesity
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	4y (4 years)
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