Phenotype #0000043097

Individual ID	00056425
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 40w; intellectual disability; 10m-sit, 20m-walk; no speech; hypotonia; seizures [y]; divergent strabismus; no hearing loss; no frequent infections; no feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; no long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; prominent interphalangeal joints; prominent distal phalanges; sandal gap; no scoliosis; cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; no fetal finger pads; no sparse scalp hair; nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	07y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:00:14 +01:00 (CET)
Date last edited	2023-11-03 12:18:09 +01:00 (CET)

Global Variome shared LOVD