Table 1.

Demographics and phenotype characteristics of the four patients reported in this study

		Patient 1	Patient 2	Patient 3	Patient 4
Demographics and variant information
Family		Family 1	Family 1	Family 2	Family 3
Gender		Male	Female	Male	Female
Age at last evaluation		3 yr 4 mo	4 yr 10 mo	2 yr 10 mo	5 yr
TAOK1 variant NM_020791.4 (GRCh38):		c.2203delA p.Arg735fs	c.2203delA p.Arg735fs	c.132 + 3_132 + 6 delAAGT p.?	c.1324C > T p.Arg442Trp
Inheritance		Het/maternal	Het/maternal	Het/de novo	Het/de novo
HPO ID	Term Description	Patient 1	Patient 2	Patient 3	Patient 4
Growth and development
HP:0001263	Global developmental delay	+	+	+	+
HP:0002194	Delayed gross motor development	+	+	+	+
HP:0007015	Poor gross motor coordination	+		+
HP:0000750	Delayed speech and language development	+	+	+	+
Brain imaging
HP:0002119	Ventriculomegaly	+	+	+
Behavior
HP:0000708	Behavioral abnormality	+	+	+	+
HP:0000729	Autistic behavior		+	+	+
HP:0100852; HP:0000739	Abnormal fear/anxiety-related behavior (Stress induced tremor) ; Anxiety	+	+		+
Neuromuscular
HP:0001252	Hypotonia	+	+	+	+
HP:0001382	Joint hypermobility	+	+	+	+/–
Feeding/gastrointestinal
HP:0008872	Feeding difficulties in infancy	+	+	+
HP:0002020	Gastroesophageal reflux	+	+	+	+
HP:0004324	Increased BMI	+	+	+	+
HP:0002019	Constipation			+	+
Genitourinary
HP:0000077	Abnormality of the kidney			+	+
Craniofacial dysmorphisms
HP:0000256	Macrocephaly	+	+	+
HP:0011220	Prominent forehead	+		+	+
HP:0001999	Abnormal facial shape			+	+
Hands and feet
HP:0011297	Abnormal digit morphology		+	+	+
Prenatal
HP:0001561	Polyhydramnios	+	+	+

(BM) Body mass index, (HPO) Human Phenotype Ontology, (+) phenotype present/consistent, (–) mild phenotype.