Phenotype #0000337109

Individual ID	00447917
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris Syndrome
Diagnosis/Definite	CSS6
Phenotype details	see paper; ..., no prenatal findings, weight 2.86 kg, length 48.5 cm; feeding difficulties, no tube feeding, no GE reflux; no congenital heart disease; hypotonia; no seizures; MRI brain normal; 23m-walk; <13m-first words; no strabismus; no myopia, no presbyopia, no astigmatism; no retinal abnormalities; no hearing loss; laryngomalacia; no cleft lip/palate; short stature (21m-<5th); no 5th digit anomalies;
Inheritance	Unknown
Age/Examination	7y (7 years)
Age/Diagnosis	1y10m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-01 16:08:19 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD