Table 2.

Comparison of the self-phenotyping cohort with the published cohort in the study by Allach El Khattabi et al [4].

Feature			Cases in the study by Allach El Khattabi et al [4] (N=45)	Presented cases (N=19)
Hypotonia			5/45	3/19
Feeding difficulties			5/45	2/19
Neurodevelopmental features
	Developmental delaya		32/45	3/19
	Motor delayb		19/45	2/19
	Speech delay		35/45	3/19
	Learning disabilities		30/45	2/19
	ASDc		24/45	4/19
	Aggression		—d	3/19
	Anxiety		—	4/19
	Seizures		10/45	3/19
	Sleep disorderse		8/45	4/19
Craniofacial features
	Microcephaly		1/23	1/19
Abnormal extremities
	Hands
		Long fingers	1/22	1/19
	Eyes
		Strabismus	6/45	1/19
		Myopia	4/45	1/19
		Amblyopia	1/23	1/19
		Nystagmus	1/22	1/19
Immunological disorders
	Immunodeficiency and autoimmune diseases		—	2/19
Others
	Asthma		—	3/19
	Hypothyroidism		—	1/19
	Umbilical hernia		1/22	1/19
	Hearing lossf		1/23	3/19
	Abnormality of the male genitalia		2 testicular ectopia and 1 cryptorchidism	1/19

^aIncluding “developmental regression” and “mild global developmental delay.”

^bCorresponding to “poor fine motor coordination.”

^cASD: autism spectrum disorder.

^dNot available.

^eIncluding “sleep disturbance” and “parasomnia.”

^fCorresponding to “hearing impairment.”