Phenotype #0000043086

Individual ID	00056414
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 40w; intellectual disability; 15m-sit, 24m-walk; no speech; hypotonia; seizures [y]; no vision problem; no hearing loss; frequent infections; feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; no thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; prominent interphalangeal joints; prominent distal phalanges; no sandal gap; no spinal anomalies; normal bone age; no scoliosis; no cryptorchidism; no fetal finger pads; sparse scalp hair; no nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:00:03 +01:00 (CET)
Date last edited	2023-11-03 12:47:50 +01:00 (CET)