Phenotype #0000330397

Individual ID	00056427
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 42w; intellectual disability; 31m-walk; 65m-first words; hypotonia; no seizures; no vision problem; no hearing loss; no frequent infections; feeding problems; rigid behavior; coarse face; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; no broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; no long philtrum; no abnormal ears; no cleft palate; generally short distal phalanges; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; delayed bone age; no scoliosis; no cryptorchidism; ASD; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	06y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-03 12:42:52 +01:00 (CET)
Date last edited	N/A