Phenotype #0000043088

Individual ID	00056416
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 38w; intellectual disability; 20m-sit, 60m-walk; 72m-first words; hypotonia; no seizures; no vision problem; no frequent infections; no feeding problems; behavioural anomalies; coarse face; low frontal hairline; synophrys; thick eyebrows; long eyelashes; no ptosis; narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; long philtrum; abnormal ears; no cleft palate; generally short distal phalanges; prominent interphalangeal joints; prominent distal phalanges; no cryptorchidism; no congenital heart disease; body hirsutism; increased skin wrinkling; fetal finger pads; no nail a/hypoplasia; delayed dentition;
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 05:00:05 +01:00 (CET)
Date last edited	2023-11-03 12:29:30 +01:00 (CET)

Global Variome shared LOVD