Table 1.

Summary of clinical findings and molecular diagnose

	P1	P2	P3
Gender	F	M	F
Gene And Mutations	NIPBL c.4321-1G > A	NIPBL c.218C > A	CREBBP c.1715delC
RefSeq	NM_133433	NM_133433	NM_004380
Origin	De nove	De nove	De nove
Weight at birth	2.85 kg	2.57 kg	U
Age at test	1 years	2 years	9 years
Weight at test	5 kg	7 kg	21 kg
Head circumference at test	40 cm	40 cm	51 cm
Height at test	65 cm	73 cm	110 cm
Growth retardation	Severe	Severe	Light
Intellectual disability	+	+	+
Speech delay	U	+	+
Arched eyebrows/Synophrys	+/+	+/−	+/+
Long eyelashes	+	+	+
Strabismus	–	–	+
Low set ears	+	–	–
Broad or Depressed nasal bridge/Anteverted nostrils	+/+	+/+	+/−
long philtrum	+	+	–
Teeth hypoplasia	U	–	+
Laryngeal cartilage dysplasia	–	+	+
Finger or toe deformity	+	+	+
Hirsutism	–	–	+
Cryptorchidism	–	+	–
Chromosomekaryotype	46,XX	46,XY	46,XX
CNV-seq	–	–	–

M: Male, F: Female, U: Unknown