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. 2024 Sep 23;12(9):e70010. doi: 10.1002/mgg3.70010

TABLE 2.

Phenotype of male and female patients with c.320A>G; p.(Asn107Ser) variant in ALG13.

Total female cases = 59 Total male cases = 3
Inheritance De novo = 55 (NR = 4) De novo = 3
Age of seizure onset 1–18 months (1 at 13 years) 4.5–9 months
Infantile spasms 49/59 3/3
Seizure type at onset evolution over time

Infantile spasms (49/56)

Polymorphic seizures 2; GTC 5; tonic 5; myoclonic 3; focal 4; LGS 8; absence 2

Infantile spasms (3/3)

GTC: 1; Focal: 2
Developmental delay 57/59 3/3
ID 48/59 2/3 (NR = 1)
Visual abnormalities 12/59 1/2 (NR = 1)
Hypotonia 13/59 2/3
Skeletal anomalies 2/59 2/3 (NR = 1)
Dysmorphic features 11/59 2/3 (NR = 1)
Skull

Brachycephaly: 2

Microcephaly: 2

Plagiocephaly (1/2)

NR = 1
Facial dysmorphisms

Hypertelorism (2/59)

Broad coarse face

Low set ears (1/59)

Micrognathia/retrognathia (3/59)

Turned‐up nose (1/59)

Long philtrum (1/59)

Synophrys (1/59)

Long eyelashes (1/59)

Widely spaced teeth (1/59)

Enophthalmos + hypotelorism (2/59)

Anteverted nares (1/59)
Multiple craniofacial dysmorphisms (1/3)
  • Irregular anterior hairline
  • Relative telecanthus
  • Wide palpebral fissures
  • Short nose
  • High nasal bridge
  • Long and flat philtrum
  • Open mouth + tented upper lip

Underdeveloped R auricle + mild retrognathia (1/3)

NR = 1
Hands + Feet

Small hands (1/59)

Adducted thumbs (1/59)

Bilateral clinodactyly + syndactyly of toes (1/59)

Clinodactyly of thumbs + big toes (1/3)

Small hands (1/3)

NR = 1
Recurrent infections 0/59 2/3

CDG transferrin isoforms

Glycan isoforms

Normal 16/59 (NR = 43)

Reported in two cases as moderate changes

Normal 2/3* (NR = 1)

*Normal: 1; Near normal: 1
MRI Brain abnormalities 14/59 3/3
Movement disorder 18/59 3/3

Abbreviations: GTC: generalized tonic–clonic; LGS: Lennox Gastaut Syndrome; NR: not reported.