Phenotype #0000043096

Individual ID	00056424
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 33w; intellectual disability; 24 m-sit, 30m-walk; 36m-first words; no hypotonia; seizures [y]; refraction error; no hearing loss; no frequent infections; feeding problems; no behavioural anomalies; coarse face; no low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; no 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; no prominent distal phalanges; no sandal gap; no spinal anomalies; scoliosis; cryptorchidism; ASD; body hirsutism; sparse scalp hair; hypoplasia toe nails; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	04y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:00:13 +01:00 (CET)
Date last edited	2023-11-03 12:34:02 +01:00 (CET)

Global Variome shared LOVD