Phenotype #0000043092

Individual ID	00056420
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 41w; intellectual disability; m-sit, 21m-wal; 36m-first words; hypotonia; no seizures; no vision problem; no frequent infections; 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; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; no thick lower vermillion; macroglossia; no short philtrum; long philtrum; no abnormal ears; no cleft palate; both 5 toes distal phalanx hypoplastic, missing middle phalanx; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; no scoliosis; no cryptorchidism; no congenital heart disease; no body hirsutism; no increased skin wrinkling; 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	03y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:00:09 +01:00 (CET)
Date last edited	2023-11-03 12:39:08 +01:00 (CET)