Disease #07255 (RATARS (Radio-Tartaglia syndrome), OMIM:619312)

Official abbreviation	RATARS
Name	Radio-Tartaglia syndrome
OMIM ID	619312
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	SPEN
Associated tissues	-
Disease features	developmental delay, intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain anomalies, spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms (high anterior hairline, bitemporal narrowing, arched/sparse eyebrow, synophrys, wide set eyes/telecanthus, epicanthus, uplifted earlobe, slightly over-folded superior helices, prominent nasal tip, flattened nasal bridge, bulbous nose, anteverted nares, long philtrum with thick vermilion, teeth abnormalities, micrognathia, high/narrow palate, pointed chin), obesity/increased BMI, (espe. in females)
Remarks	-
Date created	2026-04-03 10:48:47 +02:00 (CEST)
Date last edited	2026-04-03 16:13:24 +02:00 (CEST)

Global Variome shared LOVD