Phenotype #0000230270

Individual ID 00303186
Associated disease CDLS
Phenotype details moderate; no brachycephaly; low anterior hairline; anterior fontanelle closed at 12 mo; arched eyebrows, synophrys, long eyelashes, no hypertelorism, no telecanthus, no ptosis, myopia, no lacrimal duct obstruction, hooding of lids; depressed nasal bridge, no 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, no widely spaced teeth, no gap between upper incisors, no micrognathia/no retrognathia; no short neck; no cutis marmorata, hirsutism, no nevus flameus, dry skin; small hands, proximally set thumbs, no clinodactyly 5th finger, no single transverse palmar crease; no small feet, no syndactyly toes; no restriction elbow movements; caridac defect, mild pulmnonic stenosis; no genitourinary defects; no gastroesophageal reflux; no feeding problems in infancy ; hearing loss, right -sided mild SNHL; MRI brain choroid plexus cysts (benign); seizures ; hypertonia; mild intellectual disability, identifies vowels, 9y-no complete words; affectionate; bisyllabic words, simple sentences (9y); 9y-normal motor development; birth 37w, birth weight 2400g (SD -0,6), length 44,5cm (SD -1,6), OFC 34,5cm (SD 1,5); weight 29,5kg (Z 0), height 132cm (Z -0,3), OFC 49,5cm (SD -1); no obesity
Diagnosis/Initial Cornelia De Lange Syndrome
Inheritance Unknown
Diagnosis/Definite CDLS5
Age/Examination 9y2m (9 years, 2 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-08 09:10:42 +02:00 (CEST)
Date last edited N/A

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