Phenotype #0000043114

Individual ID	00048031
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS3
Phenotype details	see paper; ..., birth 39w; intellectual disability; 7m-sit; 10m-first words; no hypotonia; no frequent infections; feeding problems; coarse face; 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; thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; long philtrum; no abnormal ears; no cleft palate; no a/hypoplasia distal phalanges V; 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; abnormal corpus callosum; umbilical hernia
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	00y11m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:52:49 +01:00 (CET)
Date last edited	2023-11-03 12:19:33 +01:00 (CET)

Global Variome shared LOVD