A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

Table 2

Comparison of presence/absence of features in previously documented cases of CHEDDA syndrome and presented case [6, 7].

	Presented case	CHEDDA syndrome
Facial gestalt	+	17/17
GDD or ID	+	16/17
Digital anomalies	−	14/17
Visual impairment	−	14/17
Musculoskeletal disorder	+	13/17
Respiratory symptoms	−	12/17
Hearing impairment	+	10/17
Seizures	?	9/17
Genitourinary disease	−	9/17
Congenital heart disease	−	8/17
Orofacial clefting	−	3/17