Phenotype #0000043094

Individual ID	00056422
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 39w; intellectual disability; 9m-sit, 25m-walk; 60m-first words; hypotonia; no seizures; no vision problem; no hearing loss; no frequent infections; no feeding problems; behavioural anomalies, hyperactivity; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; large ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; prominent interphalangeal joints; no prominent distal phalanges; sandal gap; no spinal anomalies; normal bone age; no scoliosis; no cryptorchidism; PFO; body hirsutism; no increased skin wrinkling; 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 05:00:11 +01:00 (CET)
Date last edited	2023-11-03 12:25:38 +01:00 (CET)

Global Variome shared LOVD