Table 1. Clinical and molecular details of the patients with confirmed chromatinopathies.

Sl. no	Age/sex	Clinical features	Molecular diagnosis	Final diagnosis
1A	7yr/M	GDD, hirsutism, brachycephaly, limb abnormalities, hypoplastic genitalia	NIPBL (ENST00000282516.13) (c.6893G > A) (pathogenic)	CdLS
1B.	4.5yr/F ( Fig. 1A, B )	GDD, FTT, arched eyebrows, smooth upper lip, thin upper lip vermilion, hirsutism, brachydactyly	NIPBL (ENST00000282516.8) (c.7235_7238delinsAA)(p.Ser2412Ter)	CdLS
2.	9mo/M ( Fig. 2A, B )	Broad thumbs, brachydactyly, downslant eyes, epicanthic folds, depressed nasal bridge, thin smooth upper lip, café-au-lait, glaucoma, epibulbar dermoid, mild developmental delay	CREBBP (c.886dupC) that resulted in a frameshift and premature truncation of the protein at codon 296	RTS
3.	5yr/F ( Fig. 3 )	Laterally sparse eyebrows, eversion of lateral third of lower eyelid, broad nasal tip, short columella	Heterozygous four base pair deletion exon 39 / KMT2D gene (c.11475_11478delACAG) /protein (p.Gln3826CysfsTer3)/ likely pathogenic	KS
4.	11mo/F ( Fig. 4 )	Small palpebral fissures, thin upper lip, hypertrichosis cubiti, puffy hands, hypotonia, GDD, FTT	KMT2A (ENST00000534358.1) (c.3464G > A) (p.Cys1155Tyr)	WDST
5.	3yr/M ( Fig. 5 )	GDD, synophrys, hirsutism, toe nail hypoplasia, scalp hypotrichosis, ASD, agenesis of corpus callosum	SMARCB1 (c.1096C > T) (p.Arg 366Cys)	CS
6.	13y/M ( Fig. 6 )	ID, hyperactivity, broad bushy eyebrows, short anteverted nostrils, smooth upper lip, hirsutism, prominent upper central incisors	ANKRD11 ( c.7814T > G) Likely pathogenic	KBG

Abbreviations: ASD, atrial septal defect; CdLS, Cornelia De Lange; CS, Coffin-Siris syndrome; FTT, failure to thrive; GDD, global developmental delay; ID, intellectual disability; KS Kabuki syndrome; RTS, Rubinstein-Taybi syndrome; WDST, Wiedemann-Steiner syndrome.