Phenotype #0000043084

Individual ID	00056412
Associated disease	CSS
Diagnosis/Initial	Coffin-Siris syndrome
Diagnosis/Definite	CSS1
Phenotype details	see paper; ..., birth 38w; intellectual disability; 27m-walk; 36m-first words; hypotonia; no seizures; frequent infections; feeding problems; friendly, quiet, easily distracted, shy; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; no broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; abnormal ears; a/hypoplasia distal phalanges V; no prominent distal phalanges; no sandal gap; no scoliosis; no congenital heart disease; body hirsutism; no sparse scalp hair; left nail a/hypoplasia; delayed dentition (13m); no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	00y30m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Eline van der Sluijs
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-09 05:00:01 +01:00 (CET)
Date last edited	2023-11-03 12:44:12 +01:00 (CET)

Global Variome shared LOVD