Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Table 1 Clinical features of patients with the mutations of PHF21A

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
Age	13 years and 6 months	3 years and 4 months	9 years and 9 months	10 years	18 years	6 years	18 years
Sex	Female	Male	Female	Male	Male	Male	Female
Exon	18	13	18	17	15	17	18
Nucleotide change NM_001101802.1	c.1955delC	c.1285G>A	c.1956delT	c.1738C>T	c.1471dupT	c.1738C>T	c.2024delA
Effect on protein NP_001095272.1	p.Pro652LeufsX104	p. Gly429Ser	p.Pro652ProfsX104	p.Arg580Ter	p.Cys491LeufsX81	p.Arg580Ter	p.Gln675ArgfsX81
Inheritance	De novo	De novo	De novo	De novo	Not found in mother	De novo	De novo
Developmental delay	+	+	+	+	+	+	+
Intellectual disability	+	+	+	+	+	+	+
Facial dysmorphism	+	+	+	+	−	+	+
Cranial anomalies	Macrocephaly	−	−	Plagiocephaly	−	−	Macrocephaly
Autism	+	N/A	−	−	+	−	+
Epilepsy/seizures/spasms	+	+	+	+	−	−	−
Language delay	+	+	+	+	+	+	+
Tapering fingers	+	+	+	−	−	−	−
Clinodactyly	+	+	+	−	+	−	−
Syndactyly	−	+	−	+	−	−	−
Impaired motor skills	+	+	+	+	+	+	+
Hypotonia	+	+	+	N/A	−	−	−
ADHD	+	N/A	+	+	+	−	N/A
Anxiety disorder	+	N/A	+	N/A	−	+	+
Neurobehavioral problems	+	+	+	+	+	−	+
Obesity	+	−	+	−	+	−	+

N/A, not available. Minus sign (“−”) represents the absence of the corresponding phenotype

ISSN: 2040-2392