Phenotype #0000043101

Individual ID	00048046
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS2
Phenotype details	see paper; ..., birth 38w; intellectual disability; >19m-walk; 12m-first words; hypotonia; seizures [y]; strabismus; no hearing loss; no frequent infections; hyperactivity; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; no thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; macroglossia; short philtrum; no long philtrum; abnormal ears; no cleft palate; no a/hypoplasia distal phalanges V; short metacarpals/metatarsals; prominent interphalangeal joints; no prominent distal phalanges; sandal gap; no spinal anomalies; delayed bone age; no scoliosis; cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; no fetal finger pads; no sparse scalp hair; nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; double ureter, diabetes mellitus II
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	09y09m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:52:36 +01:00 (CET)
Date last edited	2023-11-03 12:46:25 +01:00 (CET)