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Table 1 Clinical features of patients with the mutations of PHF21A

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

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