Table 2.
OMIM autosomal recessive diseases description and HKOs phenotypical features.
| Gene | OMIM disease (MIM number) | Expected phenotypical features | Detected phenotypical features |
|---|---|---|---|
| C7 | C7 deficiency (#610102) | Increased susceptibility to systemic infections | Meningococcal meningitis, pericarditis, pneumonia, soft tissue infection |
| F12 | Factor XII deficiency (#234000) | Prolonged APTT | Prolonged APTT |
| GPR68 | Amelogenesis imperfecta, hypomaturation type, IIA6 (#617217) | Enamel abnormalities, multiple caries | Multiples caries and recurrent tooth decay |
| ACADSB | 2-methylbutyrylglycinuria (#610006) | Developmental delay and neurological signs | – |
| FANCL | Fanconi anemia, complementation group L (#614083) | Bone marrow failure, skeletal abnormalities, increased cancer risk | Head and neck carcinoma, short stature |
| GRK1 | Oguchi disease type 2 (#613411) | Night blindness | – |
| LGI4 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect (#617468) | Neurogenic defect with poor or absent myelin formation around peripheral nerves; prenatal onset; usually lethal in utero or in early childhood | – |
| MPO | Myeloperoxidase deficiency (#254600) | Candidiasis | – |
| PGAM2 | Glycogen storage disease X (#261670) | Muscle cramps, exercise intolerance, elevated serum creatine phosphokinase, myoglobinuria | – |
| RP1L1 | Retinitis pigmentosa 88 (#618826) | Decreased visual acuity | – |
OMIM disease: autosomal recessive diseases associated with variants in the selected genes; MIM reference numbers are detailed in brackets. Expected phenotypical features: main clinical features associated with each specific syndrome. Detected phenotypical features: identified HKOs clinical presentations.