All terms in HP
| Label | Id | Description |
|---|---|---|
| Fragmentation of thumb epiphysis | HP_0009690 | |
| Irregular epiphysis of the proximal phalanx of the thumb | HP_0009669 | |
| Irregular thumb epiphysis | HP_0009691 | |
| Attention deficit hyperactivity disorder | HP_0007018 | |
| Progressive forgetfulness | HP_0007017 | |
| Decreased circulating IgG2 level | HP_0008348 | |
| Decreased circulating IgG subclass level | HP_0032135 | |
| Corticospinal tract hypoplasia | HP_0007016 | |
| Aplasia/Hypoplasia involving the corticospinal tracts | HP_0007365 | |
| Decreased activity of mitochondrial complex IV | HP_0008347 | |
| Paranoia | HP_0011999 | |
| Increased red cell sickling tendency | HP_0008346 | |
| Poor gross motor coordination | HP_0007015 | |
| Hypoplasia of the zygomatic bone | HP_0010669 | |
| Hypoplasia of the iris dilator muscle | HP_0008345 | |
| Postprandial hyperlactemia | HP_0011997 | |
| Increased serum lactate | HP_0002151 | |
| Hypoplasia of the anterior nasal spine | HP_0010666 | |
| Elevated plasma branched chain amino acids | HP_0008344 | |
| Abnormal circulating branched chain amino acid concentration | HP_0010892 |