Phenotype #0000043087

Individual ID	00056415
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 40w; intellectual disability; 11m-sit, 28m-walk; 48m-first words; no seizures; no hearing loss; no frequent infections; no feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thick lower vermillion; macroglossia; short philtrum; no long philtrum; abnormal ears; no cleft palate; mild a/hypoplasia distal phalanges V; no prominent interphalangeal joints; no prominent distal phalanges; no spinal anomalies; cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; fetal finger pads; mild sparse scalp hair; mild nail a/hypoplasia; abnormal dentition ("conic" teeth), hippocampal malrotation; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; umbilical hernia
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	04y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:00:04 +01:00 (CET)
Date last edited	2023-11-03 12:38:09 +01:00 (CET)

Global Variome shared LOVD