Clinical features of affected individuals with biallelic ATP9A pathogenic variants
| Affected individual | A-II-1 | A-II-2 | B-II-1 |
| Sex | Male | Male | Male |
| Ethnicity | Syrian | Turkish | |
| Consanguinous | Yes | Yes | |
| Age at last evaluation | 12 years, 3 months | 4 years, 5 months | 9 years, 7 months |
| Clinical phenotype | |||
| Pregnancy | |||
| Gestation | Unknown | 38+1 | 41+2 |
| Birth weight (g) | Unknown | 3492 g (0.36 SD) | 3570 g (−0.41 SD) |
| Birth length (cm) | Unknown | 56 cm (2.08 SD) | 50 cm (−1.37 SD) |
| Birth OFC (cm) | Unknown | 34.5 cm (−0.33 SD) | 34 cm (−1.47 SD) |
| Growth (last assessment) | |||
| OFC (cm) | 49.5 cm (−3.10 SD) | 48 cm (−2.33 SD) | 48 cm (−3.58 SD) |
| Height (cm) | 125 cm (−3.71 SD) | 101 cm (−1.66 SD) | 121 cm (−3.10 SD) |
| Weight (kg) | 26.3 kg (−2.95 SD) | 13.8 kg (−2.50 SD) | 19.6 kg (−4.01 SD) |
| Neurodevelopment | |||
| Motor delay HP:0001270 | + | + | + |
| Speech delay HP:0000750 | + | + | + |
| Fine motor impairment HP:0007010 | + | + | + |
| ID, mild HP:0001256 | + | +/− | – |
| ID, severe HP:0010864 | – | – | + |
| Hyperactivity HP:0000752 | + | – | – |
| Short attention span HP:0000736 | + | + | + |
| Sleep disturbance HP:0002360 | + | – | + |
| Dysmorphism | |||
| Postnatal microcephaly HP:0005484 | + | + | + |
| Smooth philtrum HP:0000319 | + | + | + |
| Thin upper lip vermilion HP:0000219 | + | + | + |
| Strabismus HP:0000486 | + | – | – |
| 2–3 toe cutaneous syndactyly HP:0005709 | + | – | + |
| High palate HP:0000218 | – | – | + |
| Brain MRI | |||
| Hypoplasia of the cerebellar vermis HP:0006817 | – | n.d. | + |
| Hypoplasia of the corpus callosum HP:0002079 | – | n.d. | + |
| Delayed myelination HP:0012448 | – | n.d. | + |
| Gastrointestinal features | |||
| Nausea and vomiting HP:0002017 | + | + | +/– |
| Gastro-oesophageal reflux HP:0002020 | + | + | + |
| Failure to thrive HP:0001508 | + | + | + |
| ATP9A (NC_000020.1, NM_006045.3, NP_006036.1) genotypes and variant description | |||
| gDNA | g.50292679G>A | g.50310546C>T | |
| cDNA | c.868C>T | c.642+1G>A | |
| RNA | n.a. | r.547_642del (exon7) | |
| Protein | p.(Arg290*) | p.(Ser184Profs*16) | |
| Genotype | Homozygous | Homozygous | |
| gnomAD frequency | Absent | Absent | |
+ indicates presence; − indicates absence; +/− means features might be present.
HP, Helicobacter pylori; ID, intellectual disability; n.a., not applicable; n.d., not determined; OFC, head circumference.