Phenotype #0000043089

Individual ID	00056417
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 37w; intellectual disability; 10m-sit, 24m-walk; 23m-first words; hypotonia; seizures [y]; strabismus, suspected optical atrophy; no hearing loss; frequent infections; feeding problems; aggressive behaviour; coarse face; low frontal hairline; synophrys; thick eyebrows; long eyelashes; no ptosis; narrow palpebral fissures; no 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; low-set, large ear lobes; no cleft palate; brachymesophalangy V, generally short distal phalanges; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; delayed bone age (13m); right cryptorchidism; slight mitral insufficiency; 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; choroideal cysts in right and left lateral ventricle
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	00y01m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:00:06 +01:00 (CET)
Date last edited	2023-11-03 12:30:28 +01:00 (CET)