Table 1.

Clinical features of affected subjects from families A–D.

Family parameters	Families information
Parameters	Family A	Family B	Family C	Family D
Pedigree ID	II:3	II:2	II:3	II:3
Nationality	Pakistani	Italian	Italian	Italian
Gender	Male	Female	Male	Female
Current age (Years)	11 yrs	15 yrs	14 yrs	7 yrs
Family history	Sporadic	Familial	Sporadic	Familial
Disease onset (years)	First year of life	First year of life	First year of life	First year of life
Consanguinity	No	No	No	No
Gestation weeks (weeks)	38	39	38	38
Pregnancy event	Uneventful	Uneventful	Uneventful	Uneventful
Developmental Features
Developmental delay	+	+	+	+
Language impairment	+	+		+
Learning disability	+	+	+	+
Sleep disorder	+	+	+	+
Head circumference	49cm	50.5 cm	46.5 cm	–
Height	52.1 cm	144.5 cm	150.5 cm	97 cm
Weight	45.9 kg	35 kg	34 kg	15 kg
Dysmorphic Features
Low set ears	+	–	–	–
Nasal bridge	Broad	Broad	Depressed	Broad
Strabismus	+	–	–	–
Facial expression	Triangular	Triangular	Triangular	–
Thin upper lip	+	+	+	+
Skeletal anomalies
Hands	Bilateral clinodactyly of the 5th little finger	Arachnodactyly, fusiforme fingers of the hands	Bilateral clinodactyly of 4th and 5th fingers of hands	Bilateral clinodactyly of 4th and 5th fingers of hands
Feet	Brachydactyly of the feet	Fusiforme fingers of the feet	Bilateral clinodactyly of 4th and 5th fingers of the feet	Bilateral clinodactyly of 4th and 5th fingers of hands
Behavioral Features
Impairment social interaction	+	+	+	+
Feeding difficulty	+	+	–	+
Agression/hyperactivity	+	+	+	+
Neurological Features
Intellectual disability	+	+	+	+
Anxiety/psychiatric	+	+	+	+
Seizure	+	+	+	–
Amnesia	+	+	+	+
Feeding difficulty	+	+	+	+
Karyotype	Normal	Normal	Normal	Normal

+, present; −, absent.