Phenotype #0000043095

Individual ID	00056423
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 39w; intellectual disability; late walk; late speech; no seizures; no vision problem; no hearing loss; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; no 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; no thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; no long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; no prominent interphalangeal joints; prominent distal phalanges; sandal gap; no scoliosis; no cryptorchidism; no congenital heart disease; body hirsutism; increased skin wrinkling; fetal finger pads; sparse scalp hair; nail a/hypoplasia;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	00y10m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:00:12 +01:00 (CET)
Date last edited	2023-11-03 12:24:30 +01:00 (CET)

Global Variome shared LOVD