Table 1 Phenotypes of patients with EIF5A variants.

From: Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Characteristics	Individual
Characteristics	1	2	3	4	5	6	7
Sex (age)^a	F (6.9 y)	F (8.4 y)	F (8.4 y)	M (18.3 y)	M (8 mo)	M (4 y)	F (16.4 y)
Genomic position^b	17:7213097	17:7214714	17:7214722	17:7214723	17:7214723	17:7214741	17:7214762
cDNA^c protein consequence^d	c.143C>A p.T48N	c.316G>A p.G106R	c.324dupA p.R109Tfs*8	c.325C>G p.R109G	c.325C>T p.R109*	c.343C>T p.P115S	c.364G>A p.E122K
Inheritance/zygosity	DN Het	DN Het	DN Het	DN Het	DN Het	DN Het	DN Het
Perinatal history
Congenital microcephaly	Yes	Yes	Yes	Unknown	No	No	Unknown
IUGR	Yes	Yes	No	Yes	No	No	No
Feeding difficulties	No	Yes	Yes	Yes	Yes	No	No
Other	No	Cardiac anomalies	Cardiac anomalies Cleft palate	Hypotonia	Cardiac anomalies Hypotonia	No	Foetal ascites
DD/ID	Moderate/severe	Moderate	Mild	Moderate	Moderate	Mild/Moderate	Moderate
CNS anomalies	No	No	No	Peritrigonal hyperintensities	No	Left lateral ventriculomegaly	No
Physical anomalies
Heart	No	Yes	Yes	Unknown	Yes	Unknown	Unknown
Craniofacial	Yes	No	Yes	Yes	Yes	No	No
Other	Hemivertebrae (L3)	No	No	Cryptorchidism Pes planus	No	No	Toe contractures Small toenails Pes planus
Growth parameters
Height (SD)	N (0.53)	SS (−2.82)	N (0.86)	N (−0.45)	N (−1.45)	N (+1 SD),	SS (−2.59)
Weight (SD)	OW (2)	LW (−2.28)	N (−0.41)	N (0.06)	LW (−3.14)	N (−0.09 SD)	N (−0.69)
HC (SD)	Mi (−3)	Mi (−7.47)	Mi (−2.11)	Mi (−2.62)	N (−0.45)	N (−1.09)	Mi (−1.94)
Facial dysmorphisms
Broad eyebrows	Yes	Yes	Yes	Yes	No	Yes	No
Abn. supraorbital ridges	Yes	Yes	Yes	Yes	No	No	No
Epi/telecanthus	No	Yes	Yes	Yes	Yes	No	Yes
Bulbous nasal tip	Yes	Yes	Yes	Yes	No	No	No
Thin upper lip	No	Yes	Yes	Yes	Yes	No	No
Micrognathia	Yes	Yes	Yes	Yes	No	Yes	No
Low set ears	Yes	Yes	No	No	No	No	Yes
Other	Lower eyelid hypoplasia	Hypertelorism	No	Prominent long ears	Plagiocephaly Sparse scalp hair Frontal bossing Downslanting PF Cupped ears	Long PF hypoplastic ala nasi	Deep-set eyes Abn. lower eyelids Small ears
Other medical issues
Joint hypermobility	No	No	Yes	Yes	N/A	No	Yes
Eye anomalies	Yes	No	No	Yes	No	Yes	Yes
Others	No	Constipation Gastroesophageal reflux Gastrostomy	Conductive deafness Premature thelarche	Constipation	Dysphagia Gastrostomy Failure to thrive	Hypotonia Flat feet	Autism ADHD Delayed puberty Nasal polyps
Initial clinical suspicion	Mandibulofacial dysostosis like	Kabuki syndrome like	Kabuki syndrome like	Kabuki syndrome like	Mowat Wilson like	None	None

Abn abnormal, ADHD attention deficit hyperactivity disorder, CNS central nervous system, DD developmental delay, HC head circumference, Het heterozygous, ID intellectual disability, IUGR intra-uterine growth retardation, LW low weight, Mi microcephaly, N within normal ranges, N/A not applicable, OW overweight, PF palpebral fissures, SD standard deviation, SS short stature.
^aAt last examination.
^bAccording to hg19.
^cGenBank reference NM_001970.5, Ensembl reference ENST00000336458.
^dUniProtKB reference P63241-1.

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Table 1 Phenotypes of patients with EIF5A variants.

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