Molecular Vision: Jiang, Mol Vis 2024; 30:466-476. Table 3

Table 3. Clinical manifestations of 4q25q26 deletions with ARS.

Ref-PMID	Age(years)	Deletion	size	Eye	Facial	Dental	Umbilicus	Heart	Hearing	Other
20881290	<1	4q25q26	7.46 Mb	ARS	FA	DA	RU	–	–	GD, MD, Mental retardation
22569110	21	4q25q26	6.4 Mb	ARS, GL	FA	DA	RU	None	None	Low thyroid
22569110	<1	4q25-q28	19.2 Mb	ARS, GL, CA	FA	Natal tooth	RU	VSD	HL	GD
20358612	1	4q25-q31	28 Mb	ARS, GL, Strabismus, High myopia	FA	DA	RU	None	None	GD, LA, LD
24715413	11	4q25–4q27	9.5 Mb	ARS, GL	FA	DA	RU	Heart murmur	None	GD, ASD, LD
24715413	7	4q25q26	8.5 Mb	ARS	FA	DA	UH	None	-	GD, MD, LA Dyspraxia
24715413	7	4q25q26	4 Mb	ARS, Strabismus	FA	DA	UH	-	None	GD, LA, Iron deficiency anemia, Seizures,
9132488	-	4q25q26	-	ARS, GL	FA	DA	-	-	-	Dyscrania
12647202	1	4q25–4q27	-	ARS, GL	FA	DA	UH	Patent ductus arteriosus and an atrial septal defect	-	GD, LA, Hypotonia, Seizures, Piebaldism
1863994	<1	4q25–4q27	-	ARS	FA	-	-	Atrial septal defect		LA, GI, Hypotonia, Seizures, Apnea, Dilated lateral ventricles
7717415	<1	4q25–4q27	-	External ocular anomaly	FA	DA	-	-	-	GD, Hypotonia, Otitis, LA, Fetal alcohol syndrome
9429145	7	4q25–4q27	-	ARS, Strabismus	FA	DA	RU	VSD, WPWS	None	GD, Aggression, Tantrums, Biting
The present study. 2023	11	4q25q26	6.15 Mb	ARS; GL	FA	DA	RU	None	None	ASD, Shortening of the upper labial frenulum, Proteinuria
The present study. 2023	9	4q25q26	6.15 Mb	ARS	FA	DA	RU	None	None	ASD, Shortening of the upper labial frenulum

Abbreviations: ARS, Axenfeld-Rieger syndrome (any combination of posterior embryotoxon, irido-corneal adhesions, iris hypoplasia, and pupillary anomalies); GL, glaucoma; FA, facial anomaly; DA, dental anomaly; RU, redundant periumbilical skin; UH, umbilical hernia; GD, growth disorder (short stature, failure to thrive, and delayed development); ASD, autism spectrum disorder; MD, Meckel’s diverticulum; GI, gastrointestinal; CA, cataract; LA, Limb abnormality; LD, Learning difficulties; VSD, Ventricular septal defect; WPWS, Wollf-parkinson-white-syndrome; HL, hearing loss; –, unknown.