Phenotype #0000250708

Individual ID	00332520
Associated disease	?
Diagnosis/Initial	developmental delay
Diagnosis/Definite	-
Phenotype details	birth 40w, weight 3390g; weight 65 kg (82nd %tile); length 155.5 cm (6th %tile); OFC 53.5 cm (45th %tile); infantile hypotonia; laryngomalacia; gastro-oesophageal reflux disease; no recurrent pneumonia; no serous otitis media; no motor delay; speech delay; learning difficulties; ECG normal; left esotropia; MRI brain normal; renal ultrasound normal; dysmorphic features; epicanthal folds; hypertelorism; downslanting palpebral fissures; medially sparse eyebrows; bifid uvula; prognathism; small, low set, posteriorly rotated ears; no single transverse palmar crease; broad thumbs and first toes; fifth finger clinodactyly; hypoplastic nails
Inheritance	Isolated (sporadic)
Age/Examination	15y (15 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-02-19 19:19:34 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD