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 3

Descriptive comparison of clinical and phenotypical features between the presented case and previously documented cases of CHEDDA syndrome including number of cases documented with each feature [6, 7].

	Presented case	CHEDDA syndrome
Variant	Missense point mutation	Missense point mutation (11)
		Deletion (3)
		Insertion (2)
		Duplication (1)
Antenatal concerns	None	None (10)
		Multiple fetal anomalies (2)
		Polyhydramnios (1)
		Small for gestational size (1)
		Increased nuchal translucency (1)
		Oligohydramnios (1)
		Cardiac malformation (1)
Current neurology	Global hypotonia	Global hypotonia (9)
		Central hypotonia and appendicular spasticity (3)
		Axial hypotonia and appendicular hypertonia (3)
		Reduced tone (1)
		Normal tone (1)
Verbal ability	Forms sentences of 3-4 words	Nonverbal (10)
		Babbles/coos (4)
		Few words (3)
Gross motor ability	Can walk, run, climb stairs; trips frequently when doing so	Cannot roll/immobile (5)
		Sits with support (5)
		Can roll/crawls (3)
		Stands with support (2)
		Walking (2)
Fine motor ability	Grasping; developing pincer grasp	Grasping (6)
		Limited/not grasping (3)
		Not reported (8)
GI abnormalities	Dysphagia	Poor feeding/dysphagia (11)
		GERD (7)
	Constipation	Constipation (6)
		None (1)