Table 2.

Clinical Features of Individuals with Mutations in SPATA5

Individual	Age (Years)	Sex	Proband or Sibling	Nucleotide and Amino Acid Changes	Hypotonia	Spasticity	DD	Vision Defect	SNHL	Microcephaly	Brain MRI	Seizure	Abnormal EEG	GI
1	6	F	P	c.2531C>T (p.Ala844Val), c.1574_1578delATGCT (p.Asn525Thrfs∗20)	+	+	+	+	+	+	thin corpus callosum	−	+	+
2	9	F	S of 1	c.2531C>T (p.Ala844Val), c.1574_1578delATGCT (p.Asn525Thrfs∗20)	+	+	+	+	+	+	thin corpus callosum	+	+	+
3	5	F	P	c.2362_2371delATTGATAGAA (p.Ile788Serfs∗47), c.251G>A (p.Arg84Gln)	+	+	+	+	+	+	delayed myelination	+	+	+
4	4	F	P	c.1343C>T (p.Ser448Leu), c.556C>T (p.Arg186∗)	+	−	+	+	+	+	normal	+	+	+
5	2	F	P	c.298G>A (p.Ala100Thr), c.556C>T (p.Arg186∗)	+	+	+	+	+	+	hypomyelination	+	+	+
6	11	M	P	c.2351G>A (p.Arg784Gln), c.269G>T (p.Ser90Ile)	+	+	+	+	+	+	progressive diffuse atrophy	+	+	+
7	6	F	S of 6	c.2351G>A (p.Arg784Gln), c.269G>T (p.Ser90Ile)	+	−	+	ND	+	+	normal	+	+	+
8	19	M	P	c.1883A>G (p.Asp628Gly), c.1586G>A (p.Arg529Gln)	+	+	+	+	+	ND	cortical atrophy, immature myelination	+	+	+
9	14	F	S of 8	c.1883A>G (p.Asp628Gly), c.1586G>A (p.Arg529Gln)	+	−	+	+	+	+	ND	+	+	−
10	8	M	P	c.1878G>C (p.Trp626Cys), c.1714+1G>A	hypertonia	+	+	+	+	+	normal	+	+	+
11	3	M	S of 10	c.1878G>C (p.Trp626Cys), c.1714+1G>A	+	−	+	+	+	+	ND	+	+	+
12	5	M	P	c.1883A>G (p.Asp628Gly), c.1677C>A (p.Tyr559∗)	+	+	+	+	+	−	enlarged cerebrospinal fluid spaces	+	+	+
13	11	F	P	c.989_991del (p.Thr330del)	+	−	+	+	+	+	normal	+	+	+
14	4	M	P	c.251G>A (p.Arg84Gln)	+	+	+	+	+	+	normal	+	+	+

See Table S2 for additional details of clinical presentations. Abbreviations are as follows: DD, developmental delay; EEG, electroencephalogram; GI, gastrointestinal issues; ND, not determined because of availability or applicability; P, proband; S, sibling; SNHL, sensorineural hearing loss.